Test Descriptions Found:

800

Metabolic and Mitochondrial Disorders

CMA

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$690.00$690.00$910.00
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$690.00$690.00$710.00
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 with CNV Detection$2400.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Dilated Cardiomyopathy Sequencing Panel with CNV Detection$1890.00
Disorders of Fatty Acid Oxidation Sequencing Panel$1440.00$1290.00
Left Ventricular Noncompaction (LVNC) Sequencing Panel with CNV Detection$1490.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$1980.00

3-Methylglutaconic Aciduria Type V

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00

3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Male Infertility Sequencing Panel with CNV Detection$2190.00

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$690.00$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 with CNV Detection$2390.00

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$690.00$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 with CNV Detection (Nuclear Genes)$1980.00

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$1280.00

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 with CNV Detection$2400.00
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 with CNV Detection$1770.00
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 with CNV Detection$1980.00

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$690.00$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 with CNV Detection$2390.00
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 with CNV Detection$1770.00
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$690.00$690.00$810.00
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 with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Male Infertility Sequencing Panel with CNV Detection$2190.00
P450 Oxidoreductase Deficiency via the POR Gene$910.00$690.00

Apolipoprotein C2 Deficiency

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00

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$690.00$690.00$710.00
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$1280.00

Benign Recurrent Intrahepatic Cholestasis

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Intrahepatic Cholestasis via the ABCB11 Gene$690.00$690.00$1400.00
Intrahepatic Cholestasis via the ATP8B1 Gene$690.00$690.00$1470.00

Beta-Mannosidosis

Test Available Sequencing Del/Dup Other
β-Mannosidase Deficiency via the MANBA Gene$690.00$1590.00

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 with CNV Detection$2390.00
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$690.00$690.00$840.00
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene$990.00$1590.00
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 with CNV Detection$2940.00

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 with CNV Detection$2400.00
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection$1770.00
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1710.00
Mitochondrial Complex IV Deficiency via the SCO2 Gene$540.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$1980.00

Carnitine Palmitoyltransferase Deficiency

Test Available Sequencing Del/Dup Other
Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene$990.00$690.00$1100.00
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$690.00$690.00$710.00
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$690.00$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 with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Male Infertility Sequencing Panel with CNV Detection$2190.00

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$690.00$690.00$1060.00
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 Molybdoflavoprotein Enzyme Deficiency

Test Available Sequencing Del/Dup Other
Molybdenum Cofactor Deficiency Type A via the MOCS1 Gene$1100.00

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$690.00$690.00$840.00

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 with CNV Detection$2400.00
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 with CNV Detection$1980.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

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$690.00$690.00$780.00

Congenital Hyperammonemia

Test Available Sequencing Del/Dup Other
Hyperammonemia Sequencing Panel$1690.00$1670.00
Hyperammonemia via the CPS1 Gene$990.00$690.00$1750.00
Urea Cycle Disorders Sequencing Panel$1490.00$840.00

Coproporphyria

Test Available Sequencing Del/Dup Other
Acute/Neurovisceral Porphyria Sequencing Panel$690.00$770.00
Chronic/Cutaneous Porphyria Sequencing Panel$1390.00$840.00
Hereditary Coproporphyria via the CPOX Gene$690.00$690.00$780.00
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 with CNV Detection (Nuclear Genes)$1710.00
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 with CNV Detection$2400.00
Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene$690.00$690.00
Dilated Cardiomyopathy Sequencing Panel with CNV Detection$1890.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection$1770.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$1980.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

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$690.00$690.00$780.00
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$690.00$690.00$840.00
Organic Aciduria Sequencing Panel$1490.00$1290.00
Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection$1710.00

Dihydropteridine Reductase Deficiency

Test Available Sequencing Del/Dup Other
Dihydropteridine Reductase (DHPR) Deficiency via the QDPR Gene$680.00
Hyperphenylalaninemia Sequencing Panel$690.00$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$690.00$690.00$1380.00

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$690.00$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 with CNV Detection$2400.00
Fabry Disease via the GLA Gene$610.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection$1770.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$1980.00

Familial Hypobetalipoproteinemia

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00

Familial Stuttering

Test Available Sequencing Del/Dup Other
Mucolipidosis and Stuttering via the GNPTAB Gene$690.00$690.00$1160.00
Mucolipidosis and Stuttering via the GNPTG Gene$540.00$690.00
Stuttering Sequencing Panel$690.00$770.00
Stuttering via the NAGPA Gene$690.00$690.00$710.00

Familial Type 5 Hyperlipoproteinemia

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00

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 with CNV Detection$2240.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
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
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection$1640.00

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$2580.00
Fetal Concerns Sequencing Panel$1590.00
Gaucher Disease via the GBA Gene$850.00
Metachromatic Leukodystrophy via the PSAP Gene$690.00$690.00$840.00

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$690.00$690.00$840.00
Glutaric Acidemia Type II via the ETFB Gene$750.00$690.00
Glutaric Acidemia Type II via the ETFDH Gene$690.00$690.00$910.00
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$690.00$690.00$750.00
GLDC-Related Glycine Encephalopathy via the GLDC gene$1250.00$690.00
Glycine Encephalopathy Sequencing Panel$690.00$730.00
Glycine Encephalopathy via the GCSH Gene$690.00$750.00

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$690.00$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 with CNV Detection$2400.00
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$690.00$690.00$1100.00
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$690.00$690.00$1590.00
Glycogen Storage Disease Type IV via the GBE1 Gene$990.00$690.00$990.00
Glycogen Storage Disease Type IX via the PHKA1 Gene$990.00$690.00$1650.00
Glycogen Storage Disease Type IX via the PHKA2 Gene$690.00$690.00$1540.00
Glycogen Storage Disease Type IX via the PHKB Gene$690.00$690.00$1540.00
Glycogen Storage Disease Type IX via the PHKG2 Gene$610.00$690.00
Glycogen Storage Disease Type VI via the PYGL Gene$690.00$690.00$990.00
Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM Gene$990.00$690.00$1130.00
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 with CNV Detection$1770.00
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 with CNV Detection$1980.00

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 with CNV Detection$2400.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
PRKAG2-Related Disorders via the PRKAG2 Gene$690.00$690.00$910.00

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$2580.00
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 with CNV Detection (Nuclear Genes)$1650.00

Gtp Cyclohydrolase I Deficiency

Test Available Sequencing Del/Dup Other
Hyperphenylalaninemia Sequencing Panel$690.00$770.00

Hemochromatosis

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Hereditary Hemochromatosis Sequencing Panel$1490.00$730.00
Hereditary Hemochromatosis via the HFE gene$610.00$690.00
Hereditary Hemochromatosis via the SLC40A1 Gene$690.00$690.00$870.00
Hereditary Hemochromatosis via the TFR2 Gene$690.00$1130.00
Juvenile Hereditary Hemochromatosis via the HAMP Gene$440.00
Juvenile Hereditary Hemochromatosis via the HFE2 (HJV) Gene$650.00
Male Infertility Sequencing Panel with CNV Detection$2190.00

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 with CNV Detection$2400.00
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
Homocystinuria Sequencing Panel$1440.00$840.00
Homocystinuria via the CBS Gene$690.00$690.00$1100.00
Homocystinuria, cblE Type, via the MTRR Gene$990.00$690.00$1060.00
Homocystinuria, cblG Type, via the MTR Gene$990.00$690.00$1650.00
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$690.00$690.00$780.00

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 with CNV Detection$2400.00
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene$690.00$690.00$1340.00
Familial Hypercholesterolemia Sequencing Panel$1390.00$770.00
Familial Hypercholesterolemia via the LDLR Gene$990.00$690.00$1060.00
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$690.00$690.00$780.00
ABCC8-Related Congenital Hyperinsulinism via the ABCC8 Gene$690.00$690.00$2020.00
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$690.00$770.00
Hypomagnesemia Sequencing Panel with CNV Detection$1590.00
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 with CNV Detection$2400.00

Hypobetalipoproteinemia

Test Available Sequencing Del/Dup Other
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene$690.00$690.00$1340.00

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$690.00$690.00$750.00
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$690.00$690.00$780.00

I Cell Disease

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel$2580.00
Fetal Concerns Sequencing Panel$1590.00
Mucolipidosis and Stuttering via the GNPTAB Gene$690.00$690.00$1160.00

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$690.00$690.00$840.00

Leigh Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
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 with CNV Detection (Nuclear Genes)$1980.00
Mitochondrial Complex I Deficiency via the NDUFS4 Gene$650.00
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1650.00
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1710.00
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$690.00$690.00$780.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Liddle Syndrome

Test Available Sequencing Del/Dup Other
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$690.00$690.00$870.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$690.00$690.00$780.00

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 with CNV Detection$2400.00
Comprehensive Fetal and Neonatal Loss Panel$2580.00
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
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

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$690.00$690.00$710.00
Maple Syrup Urine Disease Type IB via the BCKDHB Gene$690.00$690.00$810.00
Maple Syrup Urine Disease Type II via the DBT Gene$690.00$690.00$890.00
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 with CNV Detection$2690.00
Congenital Hyperinsulinism Sequencing Panel$1490.00$840.00
Hyperglycemia and Hypoglycemia via the GCK Gene$750.00$690.00
Hypomagnesemia Sequencing Panel with CNV Detection$1590.00
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$690.00$690.00$870.00
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene$690.00$690.00$940.00
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene$690.00$690.00$940.00
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$690.00$690.00$780.00
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$690.00$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 with CNV Detection$2390.00
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$690.00
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$690.00$690.00$990.00
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 with CNV Detection$2390.00
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$690.00$690.00$990.00
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene$990.00$1160.00
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$690.00$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$690.00$690.00$780.00

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$1190.00
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1980.00
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 with CNV Detection$2520.00

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 with CNV Detection (Nuclear Genes)$1650.00

Mitochondrial Complex IV Deficiency

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1710.00
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 with CNV Detection (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 with CNV Detection$2400.00
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$1280.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$690.00$690.00$780.00
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene$690.00$690.00$750.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$690.00$690.00$780.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$690.00$690.00$710.00

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$690.00$690.00$710.00

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

Test Available Sequencing Del/Dup Other
Molybdenum Cofactor Deficiency Type B via the MOCS2 Gene$780.00

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 with CNV Detection$2940.00

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$2580.00
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$2580.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
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$690.00$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$690.00$690.00$940.00
Mucopolysaccharidosis Type IIID / Sanfilippo Syndrome D via the GNS Gene$690.00$690.00$870.00
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 with CNV Detection$2940.00

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$2580.00
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$690.00$690.00$820.00

Niemann-Pick Disease

Test Available Sequencing Del/Dup Other
Interstitial Lung Disease Sequencing Panel with CNV Detection$1770.00
Niemann-Pick Disease Type C Sequencing Panel$1440.00$730.00
Niemann-Pick Disease Type C via the NPC1 Gene$990.00$690.00$1220.00
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 with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome Sequencing Panel with CNV Detection$1680.00
Male Infertility Sequencing Panel with CNV Detection$2190.00
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$1160.00
Non-Syndromic Monogenic Obesity via the PCSK1 Gene$990.00$690.00
Non-Syndromic Monogenic Obesity via the POMC Gene$690.00

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$690.00$690.00$780.00

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 with CNV Detection$2940.00

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 with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome Sequencing Panel with CNV Detection$1680.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Male Infertility Sequencing Panel with CNV Detection$2190.00

Peroxisomal Acyl-CoA Oxidase Deficiency

Test Available Sequencing Del/Dup Other
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$990.00$690.00$990.00
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$690.00$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$690.00$690.00$840.00
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 with CNV Detection$2390.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Phosphoglycerate Kinase Deficiency via the PGK1 Gene$690.00$690.00$810.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

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$990.00

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$690.00$730.00
Primary Hyperoxaluria Type 1 via the AGXT Gene$690.00$690.00$810.00
Primary Hyperoxaluria type 2 via the GRHPR Gene$690.00$690.00$710.00
Primary Hyperoxaluria Type 3 via the HOGA1 Gene$690.00$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$1340.00
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene$690.00$690.00$710.00
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$1280.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$690.00$690.00$780.00

Progressive Familial Intrahepatic Cholestasis

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Intrahepatic Cholestasis via the ABCB11 Gene$690.00$690.00$1400.00
Intrahepatic Cholestasis via the ABCB4 Gene$690.00$690.00$1620.00
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$690.00$690.00$1470.00
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$1280.00

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$690.00$730.00
Propionic Acidemia via the PCCA Gene$690.00$690.00$1180.00
Propionic Acidemia via the PCCB Gene$690.00$690.00$840.00

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$690.00$690.00$990.00

Pseudo-Hurler Polydystrophy

Test Available Sequencing Del/Dup Other
Mucolipidosis and Stuttering via the GNPTAB Gene$690.00$690.00$1160.00

Pseudohypoaldosteronism

Test Available Sequencing Del/Dup Other
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene$690.00$690.00$780.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$690.00$690.00$870.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$690.00$690.00$780.00
Pseudohypoaldosteronism Type I Sequencing Panel$690.00$840.00
Pseudohypoaldosteronism Type II Sequencing Panel$690.00$840.00
Pseudohypoaldosteronism Type II via the CUL3 Gene$990.00$690.00$1060.00
Pseudohypoaldosteronism Type II via the KLHL3 Gene$690.00$690.00$940.00
Pseudohypoaldosteronism Type II via the WNK1 Gene$990.00$690.00$1720.00
Pseudohypoaldosteronism Type II via the WNK4 Gene$990.00$690.00$1160.00

Pseudohypoaldosteronism, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene$690.00$690.00$910.00
Pseudohypoaldosteronism Type I Sequencing Panel$690.00$840.00

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$690.00$690.00$910.00
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$690.00$690.00$1160.00

Pyruvate Dehydrogenase Deficiency

Test Available Sequencing Del/Dup Other
Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection$1710.00
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 with CNV Detection$2940.00

Refsum Disease

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Refsum Disease via the PHYH Gene$690.00$690.00$840.00

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$690.00$690.00$780.00
Rhizomelic Chondrodysplasia Punctata Type 2 via the GNPAT Gene$990.00$690.00$1020.00
Rhizomelic Chondrodysplasia Punctata Type 3 via the AGPS Gene$990.00$690.00$1280.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

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$1280.00

Sepiapterin Reductase Deficiency

Test Available Sequencing Del/Dup Other
Dystonia Sequencing Panel with CNV Detection$2100.00
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$1100.00
Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene$690.00$690.00$780.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene$690.00$690.00$750.00
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$2580.00
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$690.00$730.00
Metachromatic Leukodystrophy via the PSAP Gene$690.00$690.00$840.00

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$1640.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
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$690.00$690.00$1160.00

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$1220.00

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 with CNV Detection$2100.00

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$1690.00
Xanthinuria Type II via the MOCOS Gene$1130.00

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