Orders
Test Descriptions Found:
787
Metabolic and Mitochondrial Disorders
2-Methyl-3-Hydroxybutyric Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 |
3 Methylcrotonyl-CoA Carboxylase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| 3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel | $1440.00 | $730.00 | |
| 3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 Gene | $990.00 | $690.00 | |
| 3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene | $910.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| 3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene | $680.00 | $690.00 | |
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 |
3-Methylglutaconic Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| 3-Methylglutaconic Aciduria Type I via the AUH Gene | $710.00 | $690.00 | |
| Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene | $490.00 | $690.00 | |
| Barth Syndrome via the TAZ Gene | $680.00 | $690.00 | |
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Dilated Cardiomyopathy Sequencing Panel | $1890.00 | $1670.00 | |
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Left Ventricular Noncompaction (LVNC) Sequencing Panel | $1540.00 | $840.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 | |
| Pan Cardiomyopathy Sequencing Panel | $1980.00 | $1670.00 |
3-Methylglutaconic Aciduria Type V
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote |
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Sex Development and Infertility Sequencing Panel | $2240.00 | $1670.00 | |
| Disorders of Sex Development Sequencing Panel | $1990.00 | $1670.00 | |
| Female Infertility Sequencing Panel | $1990.00 | $1670.00 | |
| Male Infertility Sequencing Panel | $2190.00 | $1670.00 |
4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Tyrosinemia Type III and Hawkinsinuria via the HPD Gene | $750.00 | $690.00 |
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Tyrosinemia Type III and Hawkinsinuria via the HPD Gene | $750.00 | $690.00 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| 6-Pyruvoyltetrahydropterin Syntase (PTPS) Deficiency via the PTS Gene | $650.00 | ||
| Hyperphenylalaninemia Sequencing Panel | $1440.00 | $770.00 |
Aceruloplasminemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Aceruloplasminemia via the CP Gene | $1220.00 | ||
| Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel | $2390.00 | $730.00 |
Acute Intermittent Porphyria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Acute Intermittent Porphyria via the HMBS Gene | $870.00 | $690.00 | |
| Acute/Neurovisceral Porphyria Sequencing Panel | $1390.00 | $770.00 | |
| Porphyria Sequencing Panel | $1390.00 | $840.00 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Complex I Deficiency Sequencing Panel (Nuclear Genes) | $1980.00 | $730.00 |
AGAT Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Creatine Deficiency Syndrome via the GATM Gene | $690.00 | $690.00 |
Alkaptonuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Alkaptonuria via the HGD Gene | $910.00 |
Alpers syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Early Infantile Epileptic Encephalopathy Sequencing Panel | $1490.00 | $1670.00 | |
| Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel | $1290.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 | |
| POLG-Related Mitochondrial Disorders via the POLG Gene | $990.00 | $690.00 |
Alpha-Glucosidase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel | $1890.00 | $1290.00 | |
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Comprehensive Neuromuscular Sequencing Panel | $2490.00 | $1990.00 | |
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene | $910.00 | $690.00 | |
| Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion | $490.00 | ||
| Hypertrophic Cardiomyopathy Sequencing Panel | $1770.00 | $1290.00 | |
| Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel | $1990.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Pan Cardiomyopathy Sequencing Panel | $1980.00 | $1670.00 |
Alpha-Methylacetoacetic Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| β-Ketothiolase Deficiency via the ACAT1 Gene | $970.00 | ||
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Alpha-Methylacyl-CoA Racemase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 |
Amino aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Gyrate Atrophy of Choroid and Retina via the OAT Gene | $810.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Interstitial Lung Disease Sequencing Panel | $1770.00 | $1290.00 | |
| Urea Cycle Disorders Sequencing Panel | $1490.00 | $840.00 |
Aminoacylase 1 Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Aminoacylase-1 Deficiency via the ACY1 Gene | $810.00 | $690.00 | |
| Early Infantile Epileptic Encephalopathy Sequencing Panel | $1490.00 | $1670.00 | |
| Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel | $1290.00 | $1670.00 |
Antly-Bixler Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Sex Development and Infertility Sequencing Panel | $2240.00 | $1670.00 | |
| Disorders of Sex Development Sequencing Panel | $1990.00 | $1670.00 | |
| Female Infertility Sequencing Panel | $1990.00 | $1670.00 | |
| Male Infertility Sequencing Panel | $2190.00 | $1670.00 | |
| P450 Oxidoreductase Deficiency via the POR Gene | $910.00 | $690.00 |
Apolipoprotein C2 Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote |
Apparent Mineralocorticoid Excess
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Apparent Mineralocorticoid Excess via the HSD11B2 Gene | $680.00 | $690.00 |
Arginase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Argininemia via the ARG1 Gene | $710.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Urea Cycle Disorders Sequencing Panel | $1490.00 | $840.00 |
Argininosuccinate Lyase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Argininosuccinate Lyase Deficiency via the ASL Gene | $970.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Urea Cycle Disorders Sequencing Panel | $1490.00 | $840.00 |
Aspartylglycosaminuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Aspartylglucosaminuria via the AGA Gene | $750.00 |
Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hereditary Sensory and Autonomic Neuropathy Sequencing Panel | $1790.00 | $840.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| POLG-Related Mitochondrial Disorders via the POLG Gene | $990.00 | $690.00 |
Benign Recurrent Intrahepatic Cholestasis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cholestasis Sequencing Panel | $1590.00 | $1290.00 | |
| Intrahepatic Cholestasis via the ABCB11 Gene | $990.00 | $690.00 | |
| Intrahepatic Cholestasis via the ATP8B1 Gene | $990.00 | $690.00 |
Beta-Mannosidosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| β-Mannosidase Deficiency via the MANBA Gene | $1590.00 | $690.00 |
Bile Acid Synthesis Defect
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cholestasis Sequencing Panel | $1590.00 | $1290.00 | |
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene | $990.00 | $690.00 | |
| Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene | $840.00 | $690.00 | |
| Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene | $990.00 | ||
| Peroxisomal Disorders Sequencing Panel | $1690.00 | $1290.00 | |
| X-Linked Adrenoleukodystrophy via the ABCD1 Gene | $780.00 | $690.00 | |
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Brown-Vialetto-Van Laere Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene | $630.00 | $690.00 | |
| Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A2 Gene | $440.00 | $690.00 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Hypertrophic Cardiomyopathy Sequencing Panel | $1770.00 | $1290.00 | |
| Mitochondrial Complex IV Deficiency Sequencing Panel (Nuclear Genes) | $1710.00 | $690.00 | |
| Mitochondrial Complex IV Deficiency via the SCO2 Gene | $540.00 | ||
| Pan Cardiomyopathy Sequencing Panel | $1980.00 | $1670.00 |
Carnitine Palmitoyltransferase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene | $990.00 | $690.00 | |
| Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene | $680.00 | $690.00 | |
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 |
Carnitine-Acylcarnitine Translocase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Carnitine-Acylcarnitine Translocase Deficiency via the SLC25A20 Gene | $710.00 | $690.00 | |
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 |
Cataract
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Anophthalmia / Microphthalmia Sequencing Panel | $1490.00 | $840.00 | |
| Cataract 10, Multiple Types (CTRCT10) via the CRYBA1 Gene | $990.00 | ||
| Cataract 17, Multiple Types (CTRCT17) via the CRYBB1 Gene | $580.00 | ||
| Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene | $610.00 | ||
| Cataract 23 (CTRCT23) via the CRYBA4 Gene | $580.00 | ||
| Cataract 3, Multiple Types (CTRCT3) via the CRYBB2 Gene | $610.00 | ||
| Cataract 9, Multiple Types (CTRCT9) via the CRYAA Gene | $490.00 | ||
| Cataract Type 11 via the PITX3 Gene | $580.00 | ||
| Cataract Type 14 via the GJA3 Gene | $540.00 | ||
| Cataract Type 2 (CTRCT2) via the CRYGC Gene | $490.00 | ||
| Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene | $650.00 | ||
| Congenital Cataracts Sequencing Panel | $1840.00 | $840.00 | |
| Congenital Cataracts via the BFSP1 Gene | $780.00 | ||
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 | |
| Sengers Syndrome via the AGK Gene | $990.00 | $690.00 |
Cerebral Folate Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cerebral Folate Deficiency via the FOLR1 Gene | $440.00 | $690.00 | |
| Disorders of Folate Metabolism and Transport Sequencing Panel | $1290.00 | $730.00 | |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Early Infantile Epileptic Encephalopathy Sequencing Panel | $1490.00 | $1670.00 | |
| Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel | $1290.00 | $1670.00 |
Cerebrotendinous Xanthomatosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| CerebroTendinous Xanthomatosis (CTX) via the CYP27A1 Gene | $750.00 | $690.00 |
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Sex Development and Infertility Sequencing Panel | $2240.00 | $1670.00 | |
| Disorders of Sex Development Sequencing Panel | $1990.00 | $1670.00 | |
| Female Infertility Sequencing Panel | $1990.00 | $1670.00 | |
| Male Infertility Sequencing Panel | $2190.00 | $1670.00 |
Citrullinemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cholestasis Sequencing Panel | $1590.00 | $1290.00 | |
| Citrullinemia, Type I via the ASS1 Gene | $840.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| SLC25A13-Related Disorders via the SLC25A13 Gene | $990.00 | $690.00 | |
| Urea Cycle Disorders Sequencing Panel | $1490.00 | $840.00 |
Coenzyme Q10 Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel | $1540.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel | $1990.00 | $1290.00 | |
| Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ2 Gene | $680.00 | $690.00 | |
| Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ6 Gene | $840.00 | $690.00 |
Combined Malonic And Methylmalonic Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Combined Malonic and Methylmalonic Aciduria (CMAMMA) via the ACSF3 Gene | $810.00 | $690.00 | |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Combined Oxidative Phosphorylation Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| AIFM1-Related Disorders via the AIFM1 Gene | $990.00 | $690.00 | |
| C12orf65-Associated Optic Atrophy via the C12orf65 Gene | $990.00 | $690.00 | |
| Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene | $650.00 | $690.00 | |
| Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel | $1290.00 | $1670.00 | |
| Mitochondrial Combined Oxidative Phosphorylation Deficiency via the MTFMT Gene | $810.00 | ||
| Mitochondrial Complex V Deficiency via the ATP5A1 Gene | $940.00 | ||
| MRPL3-Related Combined Oxidative Phosphorylation Deficiency via the MRPL3 Gene | $810.00 | ||
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 | |
| TSFM-Related Combined Oxidative Phosphorylation Deficiency via the TSFM Gene | $780.00 |
Combined Saposin Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Metachromatic Leukodystrophy via the PSAP Gene | $840.00 | $690.00 |
Congenital Adrenal Hyperplasia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency via the CYP21A2 Gene | $870.00 |
Congenital Disorder Of Glycosylation
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Comprehensive Neuromuscular Sequencing Panel | $2490.00 | $1990.00 | |
| Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via the DPM2 Gene | $490.00 | $690.00 | |
| Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 1 | $1790.00 | $770.00 | |
| Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 2 | $3370.00 | $840.00 | |
| Congenital Disorders of Glycosylation, Type Ia (CDG-Ia) via the PMM2 Gene | $650.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type Ib (CDG Ib) via the MPI Gene | $650.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type Ic (CDG Ic) via the ALG6 Gene | $810.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type Id (CDG Id) via the ALG3 Gene | $680.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via the DPM1 Gene | $650.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene | $610.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via the ALG12 Gene | $680.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via the ALG8 Gene | $810.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via the ALG2 Gene | $540.00 | $690.00 | |
| Congenital Disorders of Glycosylation, Type IIj via the COG4 Gene | $1100.00 | ||
| Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via the DPM3 Gene | $490.00 | $690.00 | |
| Congenital Muscular Dystrophy Sequencing Panel | $2140.00 | $1290.00 | |
| Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel | $1790.00 | $1290.00 | |
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Leukocyte Adhesion Deficiency Type 2 (LADII) via the SLC35C1 Gene | $490.00 | $690.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Pan Cardiomyopathy Sequencing Panel | $1980.00 | $1670.00 |
Congenital Generalized Lipodystrophy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Congenital Generalized Lipodystrophy (CGL) Sequencing Panel | $1090.00 | $730.00 | |
| Congenital Generalized Lipodystrophy (CGL) via the AGPAT2 Gene | $640.00 | ||
| Seipin-Related Disorders via the BSCL2 Gene | $780.00 | $690.00 |
Congenital Hyperammonemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Hyperammonemia via the CPS1 Gene | $990.00 | $690.00 | |
| Urea Cycle Disorders Sequencing Panel | $1490.00 | $840.00 |
Coproporphyria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Acute/Neurovisceral Porphyria Sequencing Panel | $1390.00 | $770.00 | |
| Chronic/Cutaneous Porphyria Sequencing Panel | $1390.00 | $840.00 | |
| Hereditary Coproporphyria via the CPOX Gene | $780.00 | $690.00 | |
| Porphyria Sequencing Panel | $1390.00 | $840.00 |
Creatine Deficiency, X-Linked
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Creatine Deficiency Syndrome via the SLC6A8 Gene | $990.00 |
Cystathioninuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cystathioninuria via the CTH Gene | $810.00 | $690.00 |
Cystinosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cystinosis via the CTNS Gene | $810.00 | ||
| Cystinosis via the CTNS Gene, 57-kb Deletion | $490.00 |
Cytochrome-C Oxidase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mitochondrial Complex IV Deficiency Sequencing Panel (Nuclear Genes) | $1710.00 | $690.00 | |
| Mitochondrial Complex IV Deficiency via the APOPT1 Gene | $680.00 | ||
| Mitochondrial Complex IV Deficiency via the COA3 Gene | $440.00 | ||
| Mitochondrial Complex IV Deficiency via the COX14 Gene | $370.00 | ||
| Mitochondrial Complex IV Deficiency via the COX20 Gene | $610.00 | ||
| Mitochondrial Complex IV Deficiency via the COX6B1 Gene | $540.00 | ||
| Mitochondrial Complex IV Deficiency via the FASTKD2 Gene | $1590.00 | ||
| Mitochondrial Complex IV Deficiency via the PET100 Gene | $540.00 | ||
| Mitochondrial Complex IV Deficiency via the SCO1 Gene | $680.00 | ||
| TACO1-Related Leigh Syndrome (LS) via the TACO1 Gene | $650.00 |
D-Bifunctional Protein Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Peroxisomal Disorders Sequencing Panel | $1690.00 | $1290.00 |
Danon Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene | $690.00 | $690.00 | |
| Dilated Cardiomyopathy Sequencing Panel | $1890.00 | $1670.00 | |
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Hypertrophic Cardiomyopathy Sequencing Panel | $1770.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Pan Cardiomyopathy Sequencing Panel | $1980.00 | $1670.00 | |
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Deficiency Of 2-Methylbutyryl-CoA Dehydrogenase
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 |
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene | $780.00 | $690.00 | |
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 |
Deficiency Of Alpha-Mannosidase
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Alpha-Mannosidosis via the MAN2B1 Gene | $1280.00 |
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Aromatic L-amino Acid Decarboxylase Deficiency via the DDC Gene | $870.00 |
Deficiency Of Butyryl-CoA Dehydrogenase
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene | $730.00 | $690.00 |
Deficiency Of Guanidinoacetate Methyltransferase
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Creatine Deficiency Syndrome via the GAMT Gene | $610.00 | $690.00 | |
| Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel | $1290.00 | $1670.00 |
Diabetes Mellitus
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperglycemia and Hypoglycemia via the GCK Gene | $750.00 | $690.00 | |
| Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via the FOXP3 Gene | $870.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene | $440.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the NEUROD1 Gene | $540.00 | $690.00 | |
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 |
Dihydrolipoamide dehydrogenase deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene | $840.00 | $690.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 | |
| Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel | $1710.00 | $840.00 |
Dihydropteridine Reductase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Dihydropteridine Reductase (DHPR) Deficiency via the QDPR Gene | $680.00 | ||
| Hyperphenylalaninemia Sequencing Panel | $1440.00 | $770.00 |
Dihydropyrimidinase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Dihydropyrimidinase deficiency via the DPYS Gene | $710.00 |
Dihydropyrimidine Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Dihydropyrimidine Dehydrogenase Deficiency via the DPYD Gene | $990.00 | $690.00 |
Dimethylglycine Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Dimethylglycine Dehydrogenase Deficiency via the DMGDH Gene | $1590.00 |
Encephalomyopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLA2 Gene | $810.00 | $690.00 |
Encephalopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Peroxisomal Disorders Sequencing Panel | $1690.00 | $1290.00 | |
| Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the DNM1L Gene | $990.00 |
Erythropoietic Porphyria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Chronic/Cutaneous Porphyria Sequencing Panel | $1390.00 | $840.00 | |
| Congenital Erythropoietic Porphyria via the UROS Gene | $750.00 | ||
| Porphyria Sequencing Panel | $1390.00 | $840.00 |
Ethylmalonic Encephalopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Ethylmalonic Encephalopathy via the ETHE1 Gene | $810.00 | $690.00 |
Fabry Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Fabry Disease via the GLA Gene | $610.00 | $690.00 | |
| Hypertrophic Cardiomyopathy Sequencing Panel | $1770.00 | $1290.00 | |
| Pan Cardiomyopathy Sequencing Panel | $1980.00 | $1670.00 |
Familial Hypobetalipoproteinemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 |
Familial Stuttering
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mucolipidosis and Stuttering via the GNPTAB Gene | $990.00 | $690.00 | |
| Mucolipidosis and Stuttering via the GNPTG Gene | $540.00 | $690.00 | |
| Stuttering Sequencing Panel | $1440.00 | $770.00 | |
| Stuttering via the NAGPA Gene | $710.00 | $690.00 |
Familial Type 5 Hyperlipoproteinemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote |
Farber Lipogranulomatosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Farber Lipogranulomatosis via the ASAH1 Gene | $840.00 | $690.00 |
Fazio-Londe Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene | $630.00 | $690.00 |
Fructose-Biphosphatase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Fructose-1,6-Bisphosphatase Deficiency via the FBP1 Gene | $610.00 | $690.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 |
Galactokinase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Congenital Cataracts Sequencing Panel | $1840.00 | $840.00 | |
| Galactosemia Type II via the GALK1 Gene | $650.00 | $690.00 |
Galactosemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Sex Development and Infertility Sequencing Panel | $2240.00 | $1670.00 | |
| Female Infertility Sequencing Panel | $1990.00 | $1670.00 | |
| Galactosemia Type I via the GALT Gene | $650.00 | $690.00 | |
| Galactosemia Type I via the GALT Gene, 5.5 kb Common Deletion | $490.00 | ||
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 |
Ganglioside Sialidase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mucolipidosis Type IV via the MCOLN1 Gene | $940.00 |
Gaucher Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| Gaucher Disease via the GBA Gene | $850.00 | ||
| Metachromatic Leukodystrophy via the PSAP Gene | $840.00 | $690.00 |
Glutaric Aciduia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glutaric Acidemia Type I via the GCDH Gene | $790.00 | $690.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Glutaric Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel | $1540.00 | $1290.00 | |
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Glutaric Acidemia Type II Sequencing Panel | $1440.00 | $770.00 | |
| Glutaric Acidemia Type II via the ETFA Gene | $840.00 | $690.00 | |
| Glutaric Acidemia Type II via the ETFB Gene | $750.00 | $690.00 | |
| Glutaric Acidemia Type II via the ETFDH Gene | $910.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Gluthathione Synthetase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glutathione Synthetase Deficiency via the GSS Gene | $910.00 | $690.00 |
Glycine Encephalopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| AMT-Related Glycine Encephalopathy via the AMT Gene | $750.00 | $690.00 | |
| GLDC-Related Glycine Encephalopathy via the GLDC gene | $1250.00 | $690.00 |
Glycine N-Methyltransferase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Glycine N-Methyltransferase Deficiency via the GNMT Gene | $750.00 | ||
| Hypermethioninemia Sequencing Panel | $1940.00 |
Glycogen Storage Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel | $1890.00 | $1290.00 | |
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Comprehensive Neuromuscular Sequencing Panel | $2490.00 | $1990.00 | |
| Fanconi-Bickel Syndrome via the SLC2A2 Gene | $750.00 | $690.00 | |
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 (GYS2) Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type Ia via the G6PC Gene | $590.00 | $690.00 | |
| Glycogen Storage Disease Type Ib via the SLC37A4 (G6PT1) Gene | $670.00 | $690.00 | |
| Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene | $910.00 | $690.00 | |
| Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion | $490.00 | ||
| Glycogen Storage Disease Type III via the AGL Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type IV via the GBE1 Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type IX via the PHKA1 Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type IX via the PHKA2 Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type IX via the PHKB Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type IX via the PHKG2 Gene | $610.00 | $690.00 | |
| Glycogen Storage Disease Type VI via the PYGL Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM Gene | $990.00 | $690.00 | |
| Glycogen Storage Disease Type X via the PGAM2 Gene | $490.00 | ||
| Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Sequential Test | $890.00 | $690.00 | |
| Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 1 | $370.00 | $690.00 | |
| Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 2 | $830.00 | $690.00 | |
| GYG1-Related Disorders via the GYG1 Gene | $750.00 | ||
| Hypertrophic Cardiomyopathy Sequencing Panel | $1770.00 | $1290.00 | |
| Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel | $1990.00 | $1670.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Pan Cardiomyopathy Sequencing Panel | $1980.00 | $1670.00 |
Glycogen Storage Disease Of Heart, Lethal Congenital
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiac Arrhythmia Sequencing Panel | $2390.00 | $1670.00 | |
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| PRKAG2-Related Disorders via the PRKAG2 Gene | $910.00 | $690.00 |
Glycogenosis With Glucoaminophosphaturia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Fanconi-Bickel Syndrome via the SLC2A2 Gene | $750.00 | $690.00 | |
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 |
GM1 Gangliosidosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via the GLB1 Gene | $870.00 | $690.00 |
GRACILE Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Bjornstad Syndrome via the BCS1L Gene | $650.00 | ||
| Gracile Syndrome via the BCS1L Gene | $650.00 | ||
| Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes) | $1650.00 |
Gtp Cyclohydrolase I Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperphenylalaninemia Sequencing Panel | $1440.00 | $770.00 |
Hemochromatosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Disorders of Sex Development and Infertility Sequencing Panel | $2240.00 | $1670.00 | |
| Disorders of Sex Development Sequencing Panel | $1990.00 | $1670.00 | |
| Female Infertility Sequencing Panel | $1990.00 | $1670.00 | |
| Hereditary Hemochromatosis Sequencing Panel | $1490.00 | $730.00 | |
| Hereditary Hemochromatosis via the HFE gene | $610.00 | $690.00 | |
| Hereditary Hemochromatosis via the SLC40A1 Gene | $870.00 | $690.00 | |
| Hereditary Hemochromatosis via the TFR2 Gene | $990.00 | ||
| Juvenile Hereditary Hemochromatosis via the HAMP Gene | $440.00 | ||
| Juvenile Hereditary Hemochromatosis via the HFE2 (HJV) Gene | $650.00 | ||
| Male Infertility Sequencing Panel | $2190.00 | $1670.00 |
Hemolytic Anemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glucose Phosphate Isomerase Deficiency via the GPI Gene | $1060.00 | $690.00 | |
| Glucose-6-Phosphate Dehydrogenase Deficiency via the G6PD Gene | $810.00 | $690.00 |
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Triosephosphate Isomerase Deficiency via the TPI1 Gene | $680.00 | $690.00 |
Hereditary Fructose Intolerance
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Hereditary Fructose Intolerance via the ALDOB Gene - Sequential Test | $710.00 | ||
| Hereditary Fructose Intolerance via the ALDOB Gene - Tier 1 | $370.00 | ||
| Hereditary Fructose Intolerance via the ALDOB Gene - Tier 2 | $650.00 | ||
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 |
Homocystinuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Disorders of Folate Metabolism and Transport Sequencing Panel | $1290.00 | $730.00 | |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Homocystinuria Sequencing Panel | $1440.00 | $840.00 | |
| Homocystinuria via the CBS Gene | $990.00 | $690.00 | |
| Homocystinuria, cblE Type, via the MTRR Gene | $990.00 | $690.00 | |
| Homocystinuria, cblG Type, via the MTR Gene | $990.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Marfan Syndrome and Related Aortopathies Sequencing Panel | $1490.00 | $1290.00 | |
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| Methylmalonic Aciduria and Homocystinuria Sequencing Panel | $1440.00 | $770.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblD type, via the MMADHC Gene | $650.00 | $690.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 | |
| Severe MTHFR Deficiency via the MTHFR Gene | $780.00 | $690.00 |
Hurler Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mucopolysaccharidosis Type I via the IDUA Gene | $870.00 | $690.00 |
Hydroxyglutaric Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| D-2-Hydroxyglutaric Aciduria Type I via the D2HGDH Gene | $810.00 | $690.00 | |
| D-2-Hydroxyglutaric Aciduria Type II via the IDH2 Gene - Targeted Variants Analysis | $370.00 | ||
| Hydroxyglutaric Aciduria Sequencing Panel | $1390.00 | $690.00 | |
| L-2-Hydroxyglutaric Aciduria Type I via the L2HGDH Gene | $940.00 | ||
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Hyperammonemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Hyperammonemia via the NAGS Gene | $650.00 | $690.00 | |
| Urea Cycle Disorders Sequencing Panel | $1490.00 | $840.00 |
Hypercholesterolemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene | $990.00 | $690.00 | |
| Familial Hypercholesterolemia Sequencing Panel | $1390.00 | $770.00 | |
| Familial Hypercholesterolemia via the LDLR Gene | $990.00 | $690.00 | |
| Familial Hypercholesterolemia via the PCSK9 Gene | $940.00 | $690.00 |
Hyperinsulinemic Hypoglycemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene | $780.00 | $690.00 | |
| ABCC8-Related Congenital Hyperinsulinism via the ABCC8 Gene | $990.00 | $690.00 | |
| Congenital Hyperinsulinism Sequencing Panel | $1490.00 | $840.00 | |
| GLUD1-Related Congenital Hyperinsulinism via the GLUD1 Gene | $990.00 | $690.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Hyperglycemia and Hypoglycemia via the GCK Gene | $750.00 | $690.00 | |
| KCNJ11-Related Congenital Hyperinsulinism via the KCNJ11 Gene | $540.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) Sequencing Panel | $1590.00 | $1290.00 |
Hypermethioninemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Hypermethioninemia Sequencing Panel | $1940.00 | ||
| S-Adenosylhomocysteine Hydrolase Deficiency via the AHCY Gene | $940.00 |
Hyperphenalalaninemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperphenylalaninemia Sequencing Panel | $1440.00 | $770.00 | |
| Hypomagnesemia Sequencing Panel | $1590.00 | $1290.00 | |
| Pterin-4 alpha-Carbinolamine Dehydratase (PCD) Deficiency via the PCBD1 Gene | $490.00 | $690.00 |
hypertriglyceridaemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote |
Hypobetalipoproteinemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene | $990.00 | $690.00 |
Hypocalciuric Hypercalcemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel | $1390.00 | $770.00 | |
| Familial Hypocalciuric Hypercalcemia (FHH) via the AP2S1 gene | $650.00 | $690.00 | |
| Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene | $750.00 | $690.00 | |
| Hypoparathyroidism Sequencing Panel | $1690.00 | $1290.00 |
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene | $780.00 | $690.00 |
I Cell Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| Mucolipidosis and Stuttering via the GNPTAB Gene | $990.00 | $690.00 |
Isovaleryl-CoA Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Isovaleric Acidemia via the IVD Gene | $840.00 | $690.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Krabbe Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Krabbe Disease via GALC Exons 11-17 (502T/Del) | $250.00 | ||
| Krabbe Disease via the GALC Gene | $910.00 | $690.00 | |
| Metachromatic Leukodystrophy via the PSAP Gene | $840.00 | $690.00 |
Leigh Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| French-Canadian type of Leigh syndrome via the LRPPRC gene | $1940.00 | $690.00 | |
| Leigh Syndrome Associated with Isolated Complex I Deficiency via the NDUFA12 Gene | $610.00 | ||
| Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFA9 Gene | $910.00 | ||
| Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene | $580.00 | ||
| Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFS7 Gene | $840.00 | ||
| Mitochondrial Complex I Deficiency Sequencing Panel (Nuclear Genes) | $1980.00 | $730.00 | |
| Mitochondrial Complex I Deficiency via the NDUFS4 Gene | $650.00 | ||
| Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes) | $1650.00 | ||
| Mitochondrial Complex IV Deficiency Sequencing Panel (Nuclear Genes) | $1710.00 | $690.00 | |
| Mitochondrial Complex IV Deficiency via the COX15 Gene | $1590.00 | ||
| NDUFA2-Related Leigh Syndrome (LS) via the NDUFA2 Gene | $490.00 | ||
| NDUFAF6-Related Leigh Syndrome (LS) via the NDUFAF6 Gene | $810.00 | ||
| SURF1-Related Leigh Syndrome (LS) via the SURF1 Gene | $580.00 |
Lesch-Lyhan Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene | $780.00 | $690.00 | |
| Nephrolithiasis and Nephrocalcinosis Sequencing Panel | $1940.00 | $1290.00 | |
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Liddle Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene | $870.00 | $690.00 | |
| Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene | $780.00 | $690.00 |
Lipid storage myopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 |
Lipodystrophy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Neuromuscular Sequencing Panel | $2490.00 | $1990.00 | |
| Congenital Generalized Lipodystrophy (CGL) Sequencing Panel | $1090.00 | $730.00 | |
| Congenital Generalized Lipodystrophy (CGL) via the PTRF Gene | $990.00 | ||
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Laminopathies via the LMNA Gene | $610.00 | $690.00 | |
| Lipodystrophy and Heritable Pulmonary Arterial Hypertension via the CAV1 Gene | $580.00 |
Lysosomal Acid Lipase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| Wolman Disease and Cholesteryl Ester Storage Disease via the LIPA Gene | $680.00 | $690.00 |
Malonyl-CoA Decarboxylase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Malonyl-CoA Decarboxylase Deficiency via the MLYCD Gene | $680.00 | ||
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Mandibuloacral Dysplasia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via the ZMPSTE24 Gene | $710.00 | $690.00 |
Maple Syrup Urine Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Maple Syrup Urine Disease Sequencing Panel | $1440.00 | $770.00 | |
| Maple Syrup Urine Disease Type IA via the BCKDHA Gene | $710.00 | $690.00 | |
| Maple Syrup Urine Disease Type IB via the BCKDHB Gene | $810.00 | $690.00 | |
| Maple Syrup Urine Disease Type II via the DBT Gene | $890.00 | $690.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Maturity-Onset Diabetes Of The Young
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel | $2290.00 | $990.00 | |
| Autosomal Dominant Polycystic Kidney Disease Sequencing Panel | $1990.00 | $960.00 | |
| Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel | $2690.00 | $1290.00 | |
| Congenital Hyperinsulinism Sequencing Panel | $1490.00 | $840.00 | |
| Hyperglycemia and Hypoglycemia via the GCK Gene | $750.00 | $690.00 | |
| Hypomagnesemia Sequencing Panel | $1590.00 | $1290.00 | |
| Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene | $440.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the NEUROD1 Gene | $540.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) Sequencing Panel | $1590.00 | $1290.00 | |
| Maturity Onset Diabetes of the Young (MODY) via the BLK Gene | $870.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene | $940.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene | $940.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) via the KLF11 Gene | $680.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene | $780.00 | $690.00 | |
| Maturity Onset Diabetes of the Young (MODY) via the PDX1 gene | $490.00 | $690.00 | |
| Nephrolithiasis and Nephrocalcinosis Sequencing Panel | $1940.00 | $1290.00 | |
| Renal Cysts and Diabetes Syndrome via the HNF1B Gene | $780.00 | $690.00 |
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene | $750.00 | $690.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 |
Megaloblastic Anemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel | $1990.00 | $1290.00 |
Metachromatic Leukodystrophy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Metachromatic Leukodystrophy Sequencing Panel | $1390.00 | $730.00 | |
| Metachromatic Leukodystrophy via the ARSA Gene | $580.00 | $690.00 |
Methionine Adenosyltransferase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Hypermethioninemia Sequencing Panel | $1940.00 | ||
| Methionine Adenosyltransferase I/III deficiency via the MAT1A Gene | $710.00 |
Methylmalonic Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Combined Malonic and Methylmalonic Aciduria (CMAMMA) via the ACSF3 Gene | $810.00 | $690.00 | |
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Homocystinuria Sequencing Panel | $1440.00 | $840.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency via the ALDH6A1 Gene | $990.00 | ||
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| Methylmalonic Acidemia via the MUT Gene | $780.00 | $690.00 | |
| Methylmalonic Acidemia, cblA type, via the MMAA Gene | $580.00 | $690.00 | |
| Methylmalonic Acidemia, cblB type, via the MMAB Gene | $650.00 | $690.00 | |
| Methylmalonic Aciduria and Homocystinuria Sequencing Panel | $1440.00 | $770.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene | $540.00 | $690.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblD type, via the MMADHC Gene | $650.00 | $690.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene | $990.00 | $690.00 | |
| Methylmalonic Aciduria and/or Homocystinuria via the CD320 Gene | $610.00 | ||
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Methylmalonic Aciduria and Homocystinuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Homocystinuria Sequencing Panel | $1440.00 | $840.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| Methylmalonic Aciduria and Homocystinuria Sequencing Panel | $1440.00 | $770.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene | $540.00 | $690.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblD type, via the MMADHC Gene | $650.00 | $690.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene | $990.00 | $690.00 | |
| Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene | $990.00 | ||
| Methylmalonic Aciduria and/or Homocystinuria via the CD320 Gene | $610.00 | ||
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 | |
| Transcobalamin II Deficiency via the TCN2 Gene | $940.00 |
Methylmalonyl-CoA Epimerase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Methlymalonyl-CoA Epimerase Deficiency via the MCEE Gene | $540.00 | ||
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Mevalonic Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene | $780.00 | $690.00 |
Mitochondrial Complex I Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene | $580.00 | ||
| Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene | $990.00 | $690.00 | |
| Mitochondrial Complex I Deficiency Sequencing Panel (Nuclear Genes) | $1980.00 | $730.00 | |
| Mitochondrial Complex I Deficiency via the NDUFA1 Gene | $490.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFA11 Gene | $580.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFAF1 Gene | $610.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFAF4 Gene | $540.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFB3 Gene | $490.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFB9 Gene | $580.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFS4 Gene | $650.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFS6 Gene | $580.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFV1 Gene | $710.00 | ||
| Mitochondrial Complex I Deficiency via the NDUFV2 Gene | $750.00 | ||
| Mitochondrial Complex I Deficiency via the NUBPL Gene | $870.00 | ||
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 |
Mitochondrial Complex II Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Infantile Leukoencephalopathy Due to Mitochondrial Complex II Deficiency via the SDHAF1 Gene | $370.00 | ||
| Mitochondrial Complex II Deficiency Sequencing Panel | $2520.00 | $770.00 |
Mitochondrial Complex III Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Bjornstad Syndrome via the BCS1L Gene | $650.00 | ||
| Gracile Syndrome via the BCS1L Gene | $650.00 | ||
| Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes) | $1650.00 |
Mitochondrial Complex IV Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| Mitochondrial Complex IV Deficiency Sequencing Panel (Nuclear Genes) | $1710.00 | $690.00 | |
| Mitochondrial Complex IV Deficiency via the COA6 Gene | $1590.00 | ||
| Mitochondrial Complex IV Deficiency via the COX15 Gene | $1590.00 |
Mitochondrial Complex V Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Mitochondrial Complex V Deficiency Sequencing Panel (Nuclear Genes) | $2100.00 | ||
| Mitochondrial Complex V Deficiency via the ATP5A1 Gene | $940.00 | ||
| Mitochondrial Complex V Deficiency via the ATP5E Gene | $440.00 | ||
| Mitochondrial Complex V Deficiency via the ATPAF2 Gene | $710.00 | ||
| Mitochondrial Complex V Deficiency via the TMEM70 Gene | $580.00 |
Mitochondrial DNA Depletion Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene | $580.00 | $690.00 | |
| Comprehensive Cardiology Sequencing Panel | $2400.00 | $Call for Quote | |
| DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene | $650.00 | $690.00 | |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| FBXL4-Related Mitochondrial DNA Depletion Syndrome via the FBXL4 Gene | $680.00 | $690.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Methylmalonic Acidemia Sequencing Panel | $1440.00 | $840.00 | |
| MGME1-Related Mitochondrial DNA Depletion Syndrome via the MGME1 Gene | $580.00 | $690.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| POLG-Related Mitochondrial Disorders via the POLG Gene | $990.00 | $690.00 | |
| RRM2B-Related Mitochondrial Disorders via the RRM2B Gene | $780.00 | $690.00 | |
| SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene | $750.00 | $690.00 | |
| SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene | $780.00 | $690.00 | |
| TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene | $710.00 | $690.00 |
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene | $710.00 | $690.00 |
Mitochondrial Phosphate Carrier Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| Mitochondrial Phosphate Carrier Deficiency via the SLC25A3 Gene | $710.00 | $690.00 |
Mitochondrial Pyruvate Carrier Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via the MPC1 (BRP44L) Gene | $610.00 |
Molybdenum Cofactor Deficiency C
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Molybdenum Cofactor Deficiency via the GPHN Gene | $1470.00 |
Monoamine Oxidase A Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Monocarboxylate Transporter 1 Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 |
Morquio Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| Mucopolysaccharidosis Type IVA / Morquio Type A Disease via the GALNS Gene | $840.00 | $690.00 |
Mucolipidosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mucolipidosis and Stuttering via the GNPTG Gene | $540.00 | $690.00 |
Mucopolysaccharidosis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via the GLB1 Gene | $870.00 | $690.00 | |
| Mucopolysaccharidosis Type I via the IDUA Gene | $870.00 | $690.00 | |
| Mucopolysaccharidosis Type II via the IDS Gene | $710.00 | ||
| Mucopolysaccharidosis Type III Sequencing Panel | $1540.00 | $840.00 | |
| Mucopolysaccharidosis Type IIIA / Sanfilippo Syndrome A via the SGSH Gene | $690.00 | $690.00 | |
| Mucopolysaccharidosis Type IIIB / Sanfilippo Syndrome B via the NAGLU Gene | $780.00 | $690.00 | |
| Mucopolysaccharidosis Type IIIC / Sanfilippo Syndrome C via the HGSNAT Gene | $940.00 | $690.00 | |
| Mucopolysaccharidosis Type IIID / Sanfilippo Syndrome D via the GNS Gene | $870.00 | $690.00 | |
| Mucopolysaccharidosis Type IX via the HYAL1 Gene | $610.00 | $690.00 | |
| Mucopolysaccharidosis Type VI / Maroteaux-Lamy Syndrome via the ARSB Gene | $680.00 | $690.00 | |
| Mucopolysaccharidosis Type VII / Sly Syndrome via the GUSB Gene | $780.00 | $690.00 | |
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Multiple Carboxylase Defiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Multiple Carboxylase Deficiency (Early Onset) via the HLCS Gene | $710.00 | $690.00 | |
| Multiple Carboxylase Deficiency (Juvenile Onset) via the BTD Gene | $580.00 | $690.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 |
Multiple Sulfatase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| Multiple Sulfatase Deficiency / Mucosulfatidosis via the SUMF1 Gene | $680.00 | $690.00 |
Navajo Neurohepatopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| MPV17-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the MPV17 Gene | $540.00 | $690.00 |
Neu-Laxova syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene | $810.00 |
Neutral Lipid Storage Disease With Myopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel | $1890.00 | $1290.00 | |
| Comprehensive Neuromuscular Sequencing Panel | $2490.00 | $1990.00 | |
| Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel | $1990.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene | $820.00 | $690.00 |
Niemann-Pick Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Interstitial Lung Disease Sequencing Panel | $1770.00 | $1290.00 | |
| Niemann-Pick Disease Type C Sequencing Panel | $1440.00 | $730.00 | |
| Niemann-Pick Disease Type C via the NPC1 Gene | $990.00 | $690.00 | |
| Niemann-Pick Disease Type C via the NPC2 Gene | $540.00 | $690.00 | |
| Niemann-Pick Disease Types A and B via the SMPD1 Gene | $750.00 | $690.00 |
Obesity
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Sex Development and Infertility Sequencing Panel | $2240.00 | $1670.00 | |
| Disorders of Sex Development Sequencing Panel | $1990.00 | $1670.00 | |
| Female Infertility Sequencing Panel | $1990.00 | $1670.00 | |
| Male Infertility Sequencing Panel | $2190.00 | $1670.00 | |
| Monogenic Obesity via the MC4R Gene | $610.00 | $690.00 | |
| Non-Syndromic Monogenic Obesity Sequencing Panel | $1490.00 | $840.00 | |
| Non-Syndromic Monogenic Obesity via the LEP Gene | $490.00 | $690.00 | |
| Non-Syndromic Monogenic Obesity via the LEPR Gene | $990.00 | $690.00 | |
| Non-Syndromic Monogenic Obesity via the PCSK1 Gene | $990.00 | $690.00 | |
| Non-Syndromic Monogenic Obesity via the POMC Gene | $990.00 |
Ophthalmoplegia With Mitochondrial DNA Deletions
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| RRM2B-Related Mitochondrial Disorders via the RRM2B Gene | $780.00 | $690.00 |
Ornithine Carbamoyltransferase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Hyperammonemia via the OTC Gene | $840.00 | $690.00 | |
| Urea Cycle Disorders Sequencing Panel | $1490.00 | $840.00 | |
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Orotic Aciduria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Orotic Aciduria via the UMPS Gene | $750.00 | $690.00 |
Panhypopituitarism X-Linked
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Sex Development and Infertility Sequencing Panel | $2240.00 | $1670.00 | |
| Disorders of Sex Development Sequencing Panel | $1990.00 | $1670.00 | |
| Female Infertility Sequencing Panel | $1990.00 | $1670.00 | |
| Hypoparathyroidism Sequencing Panel | $1690.00 | $1290.00 | |
| Male Infertility Sequencing Panel | $2190.00 | $1670.00 |
Peroxisomal Acyl-CoA Oxidase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Acyl-CoA Oxidase Deficiency via the ACOX1 Gene | $990.00 | $690.00 | |
| Peroxisomal Disorders Sequencing Panel | $1690.00 | $1290.00 | |
| Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the DNM1L Gene | $990.00 |
Phenylketonuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hyperphenylalaninemia Sequencing Panel | $1440.00 | $770.00 | |
| Hyperphenylalaninemia via the DNAJC12 Gene | $650.00 | ||
| Phenylalanine Hydroxylase Deficiency via the PAH Gene | $810.00 | $690.00 |
Phosphoenolpyruvate Carboxykinase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene | $840.00 | $690.00 | |
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via the PCK2 Gene | $870.00 | $690.00 |
Phosphoglycerate Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene | $810.00 |
Phosphoglycerate Kinase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Phosphoglycerate Kinase Deficiency via the PGK1 Gene | $810.00 | $690.00 | |
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Phosphoribosylpyrophosphate Synthetase Superactivity
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| PRPS1-Related Disorders | $680.00 | $690.00 |
Polyglucosan body disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Glycogen Storage Disease Type IV via the GBE1 Gene | $990.00 | $690.00 |
Polyglucosan Body Myopathy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| GYG1-Related Disorders via the GYG1 Gene | $750.00 | ||
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Polyglucosan Body Myopathy Type I, with or without Immunodeficiency, via the RBCK1 Gene | $940.00 |
Primary Hyperoxaluria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Nephrolithiasis and Nephrocalcinosis Sequencing Panel | $1940.00 | $1290.00 | |
| Primary Hyperoxaluria Sequencing Panel | $1440.00 | $730.00 | |
| Primary Hyperoxaluria Type 1 via the AGXT Gene | $810.00 | $690.00 | |
| Primary Hyperoxaluria type 2 via the GRHPR Gene | $710.00 | $690.00 | |
| Primary Hyperoxaluria Type 3 via the HOGA1 Gene | $710.00 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Depletion
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene | $580.00 | $690.00 | |
| Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene | $680.00 | $690.00 | |
| Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene | $990.00 | $690.00 | |
| Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene | $710.00 | $690.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 | |
| POLG-Related Mitochondrial Disorders via the POLG Gene | $990.00 | $690.00 | |
| RRM2B-Related Mitochondrial Disorders via the RRM2B Gene | $780.00 | $690.00 |
Progressive Familial Intrahepatic Cholestasis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cholestasis Sequencing Panel | $1590.00 | $1290.00 | |
| Intrahepatic Cholestasis via the ABCB11 Gene | $990.00 | $690.00 | |
| Intrahepatic Cholestasis via the ABCB4 Gene | $990.00 | $690.00 | |
| Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel | $1490.00 | $840.00 |
Progressive Intrahepatic Cholestasis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Cholestasis Sequencing Panel | $1590.00 | $1290.00 | |
| Intrahepatic Cholestasis via the ATP8B1 Gene | $990.00 | $690.00 | |
| Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel | $1490.00 | $840.00 |
Progressive Sclerosing Poliodystrophy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Early Infantile Epileptic Encephalopathy Sequencing Panel | $1490.00 | $1670.00 | |
| Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel | $1290.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| Optic Atrophy Sequencing Panel | $1590.00 | $1290.00 | |
| POLG-Related Mitochondrial Disorders via the POLG Gene | $990.00 | $690.00 |
Propionic Acidemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel | $1590.00 | $1290.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Organic Aciduria Sequencing Panel | $1490.00 | $1290.00 | |
| Propionic Acidemia Sequencing Panel | $1440.00 | $730.00 | |
| Propionic Acidemia via the PCCA Gene | $990.00 | $690.00 | |
| Propionic Acidemia via the PCCB Gene | $840.00 | $690.00 |
Prothrombin Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Bleeding Disorders Sequencing Panel | $2490.00 | $1670.00 | |
| Coagulation Factor Deficiency Sequencing Panel | $1990.00 | $1290.00 | |
| Prothrombin/Factor II Deficiency via the F2 Gene | $990.00 | $690.00 |
Pseudo-Hurler Polydystrophy
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Mucolipidosis and Stuttering via the GNPTAB Gene | $990.00 | $690.00 |
Pseudohypoaldosteronism
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene | $780.00 | $690.00 | |
| Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene | $870.00 | $690.00 | |
| Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene | $780.00 | $690.00 | |
| Pseudohypoaldosteronism Type II Sequencing Panel | $1490.00 | $840.00 | |
| Pseudohypoaldosteronism Type II via the CUL3 Gene | $990.00 | $690.00 | |
| Pseudohypoaldosteronism Type II via the KLHL3 Gene | $940.00 | $690.00 | |
| Pseudohypoaldosteronism Type II via the WNK1 Gene | $990.00 | $690.00 | |
| Pseudohypoaldosteronism Type II via the WNK4 Gene | $990.00 | $690.00 |
Pseudohypoaldosteronism, Autosomal Dominant
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene | $910.00 | $690.00 |
Pseudohypoparathyroidism
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel | $1940.00 | $1290.00 | |
| GNAS-Related Disorders via the GNAS Gene | $910.00 | $690.00 | |
| Hypoparathyroidism Sequencing Panel | $1690.00 | $1290.00 |
Pyruvate Carboxylase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel | $1890.00 | $1290.00 | |
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Pyruvate Carboxylase Deficiency via the PC Gene | $990.00 | $690.00 |
Pyruvate Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel | $1710.00 | $840.00 | |
| Pyruvate Dehydrogenase E1α Deficiency via the PDHA1 Gene | $810.00 | $690.00 | |
| Pyruvate Dehydrogenase E1β Deficiency via the PDHB Gene | $750.00 | $690.00 | |
| Pyruvate Dehydrogenase E2 Deficiency via the DLAT Gene | $990.00 | $690.00 | |
| Pyruvate Dehydrogenase E3-Binding Protein (E3BP) Deficiency via the PDHX Gene | $990.00 | $690.00 | |
| Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency via the LIAS Gene | $840.00 | $690.00 | |
| Pyruvate Dehydrogenase Phosphatase Deficiency via the PDP1 Gene | $580.00 | $690.00 | |
| X-Linked Intellectual Disability Sequencing Panel | $2940.00 | $1670.00 |
Refsum Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Peroxisomal Disorders Sequencing Panel | $1690.00 | $1290.00 | |
| Refsum Disease via the PHYH Gene | $840.00 | $690.00 |
Rhizomelic Chondrodysplasia Punctata
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Peroxisomal Disorders Sequencing Panel | $1690.00 | $1290.00 | |
| Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene | $780.00 | $690.00 | |
| Rhizomelic Chondrodysplasia Punctata Type 2 via the GNPAT Gene | $990.00 | $690.00 | |
| Rhizomelic Chondrodysplasia Punctata Type 3 via the AGPS Gene | $990.00 | $690.00 |
Sandhoff Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Sandhoff Disease via the HEXB Gene | $870.00 | $690.00 |
Sengers syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Congenital Cataracts Sequencing Panel | $1840.00 | $840.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| Sengers Syndrome via the AGK Gene | $990.00 | $690.00 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Hereditary Sensory and Autonomic Neuropathy Sequencing Panel | $1790.00 | $840.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| POLG-Related Mitochondrial Disorders via the POLG Gene | $990.00 | $690.00 |
Sepiapterin Reductase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Dystonia Sequencing Panel | $2100.00 | $840.00 | |
| Sepiapterin Reductase (SR) Deficiency via the SPR Gene | $540.00 |
Severe Combined Immunodeficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Adenosine Deaminase Deficiency via the ADA Gene | $810.00 | $690.00 | |
| Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene | $990.00 | $690.00 | |
| Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene | $780.00 | $690.00 | |
| Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene | $750.00 | $690.00 | |
| Severe Combined Immunodeficiency/Omenn Syndrome via the RAG2 Gene | $580.00 | $690.00 | |
| X-linked Severe Combined Immunodeficiency via the IL2RG Gene | $680.00 | $690.00 |
Sialuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Sialuria via the GNE Gene, Exon 5 | $250.00 | $690.00 |
Sjogren-Larsson Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Sjogren-Larsson Syndrome via the ALDH3A2 Gene | $750.00 |
Slow Acetylation
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Slow Acetylation, Drug-Induced Hepatotoxicity, and Other Adverse Drug Reactions via the NAT2 Gene | $440.00 |
Smith-Lemli-Opitz Syndrome
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Comprehensive Fetal and Neonatal Loss Panel | |||
| Fetal Concerns Sequencing Panel | $1590.00 | ||
| Smith-Lemli-Opitz Syndrome via the DHCR7 Gene | $710.00 | $690.00 |
Sphingolipid Activator Protein 1 Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Metachromatic Leukodystrophy Sequencing Panel | $1390.00 | $730.00 | |
| Metachromatic Leukodystrophy via the PSAP Gene | $840.00 | $690.00 |
Spinocerebellar Ataxia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Ataxia with Oculomotor Apraxia Sequencing Panel | $1440.00 | $770.00 | |
| Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene | $680.00 | $690.00 | |
| Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene | $990.00 | $690.00 | |
| Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel | $2390.00 | $1990.00 | |
| Comprehensive Neuropathy Sequencing Panel | $1990.00 | $1670.00 | |
| Distal Hereditary Motor Neuropathy Sequencing Panel | $1740.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel | $1540.00 | $1290.00 | |
| Spinocerebellar Ataxia 21 via the TMEM240 Gene | $680.00 |
Succinyl-CoA Acetoacetate Transferase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Metabolic Hypoglycemia Sequencing Panel | $1690.00 | $1290.00 | |
| Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene | $990.00 | $690.00 |
Sulfite Oxidase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Sulfite Oxidase Deficiency via the SUOX gene | $680.00 |
Trifunctional Protein Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Hypoparathyroidism Sequencing Panel | $1690.00 | $1290.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via the HADHA Gene | $990.00 | $690.00 |
Trimethylaminuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Trimethylaminuria via the FMO3 Gene | $710.00 | $690.00 |
Tyrosine Hydroxylase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Autosomal Recessive DOPA-Responsive Dystonia via the TH Gene | $840.00 | $690.00 | |
| Dystonia Sequencing Panel | $2100.00 | $840.00 |
Tyrosinemia
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Tyrosinemia, Type I via the FAH Gene | $580.00 | $690.00 | |
| Tyrosinemia, Type II via the TAT Gene | $780.00 | $690.00 |
UDPglucose-4-Epimerase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Epimerase Deficiency Galactosemia via the GALE Gene | $810.00 | $690.00 |
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Disorders of Fatty Acid Oxidation Sequencing Panel | $1440.00 | $1290.00 | |
| Hyperammonemia Sequencing Panel | $1690.00 | $1670.00 | |
| Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel | $1790.00 | $1670.00 | |
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency via the ACADVL Gene | $750.00 | $690.00 |
Wilson's Disease
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Wilson Disease / Hepatolenticular Degeneration via the ATP7B Gene | $1190.00 | $690.00 |
Xanthinuria
| Test Available | Sequencing | Del/Dup | Other |
|---|---|---|---|
| Nephrolithiasis and Nephrocalcinosis Sequencing Panel | $1940.00 | $1290.00 | |
| Xanthinuria Type I via the XDH Gene | $990.00 | $690.00 |
All of our prices are as listed. No strings attached.