Test Descriptions Found:

338

Newborn Screening Followup

Newborn Screening PDF

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

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
Metabolic Hypoglycemia Sequencing Panel$1690.00$1290.00

ABCD Syndrome

Test Available Sequencing Del/Dup Other
Waardenburg Syndrome Type IVA via the EDNRB Gene$680.00$690.00

Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency

Test Available Sequencing Del/Dup Other
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency via the CYP21A2 Gene$870.00

Adrenal Hypoplasia Congenita, 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
Male Infertility Sequencing Panel$2190.00$1670.00
NR0B1-Related Disorders via the NR0B1 Gene$540.00$690.00

Albinism

Test Available Sequencing Del/Dup Other
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$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

Atrial Septal Defect

Test Available Sequencing Del/Dup Other
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the ACTC1 Gene$610.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene$650.00$690.00

Atrioventricular Septal Defect

Test Available Sequencing Del/Dup Other
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene$650.00$690.00

Benign Hereditary Chorea

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene$680.00$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

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene$680.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Chudley-McCullough syndrome

Test Available Sequencing Del/Dup Other
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene$990.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$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

Congenital Adrenal Hyperplasia

Test Available Sequencing Del/Dup Other
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency via the CYP21A2 Gene$870.00

Congenital Bilateral Absence Of The Vas Deferens

Test Available Sequencing Del/Dup Other
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

Conotruncal Heart Malformations

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene$580.00$690.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00

Craniofacial Deafness Hand Syndrome

Test Available Sequencing Del/Dup Other
Waardenburg Syndrome Types I and III via the PAX3 Gene$680.00$690.00

Cystic Fibrosis

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel$2090.00$1290.00

Deafness, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene$990.00$690.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$990.00$690.00
Deafness, Autosomal Dominant 15 (DFNA15) via the POU4F3 Gene$540.00$690.00
Deafness, Autosomal Dominant 20 (DFNA20) via the ACTG1 Gene$540.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$990.00$690.00
Deafness, Autosomal Dominant 25 (DFNA25) via the SLC17A8 Gene$870.00$690.00
Deafness, Autosomal Dominant 2A (DFNA2A) via the KCNQ4 Gene$990.00$690.00
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene$490.00$690.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$990.00$690.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene$490.00$690.00
Deafness, Autosomal Dominant 40 (DFNA40) via the CRYM Gene$710.00$690.00
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 Gene$970.00$690.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene$990.00$690.00
Deafness, Autosomal Dominant 4B (DFNA4B) via the CEACAM16 Gene$680.00$690.00
Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene$990.00$690.00
Deafness, Autosomal Dominant 64 (DFNA64) via the DIABLO Gene$990.00$690.00
Deafness, Autosomal Dominant 9 (DFNA9) via the COCH Gene$870.00$690.00
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 1$890.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 2$1270.00$690.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene$1090.00$690.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$990.00$690.00
WFS1-Related Disorders via the WFS1 Gene$870.00$690.00
Wolfram Syndrome Sanger Sequencing Panel$1310.00$730.00

Deafness, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$990.00$690.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$990.00$690.00
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene$490.00$690.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$990.00$690.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene$490.00$690.00
Deafness, Autosomal Recessive 15 (DFNB15) via the GIPC3 Gene$610.00$690.00
Deafness, Autosomal Recessive 22 (DFNB22) via the OTOA Gene$990.00$690.00
Deafness, Autosomal Recessive 24 (DFNB24) via the RDX Gene$940.00$690.00
Deafness, Autosomal Recessive 25 (DFNB25) via the GRXCR1 Gene$540.00$690.00
Deafness, Autosomal Recessive 28 (DFNB28) via the TRIOBP Gene$990.00$690.00
Deafness, Autosomal Recessive 29 (DFNB29) via the CLDN14 Gene$490.00$690.00
Deafness, Autosomal Recessive 3 (DFNB3) via the MYO15A Gene$990.00$690.00
Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A Gene$990.00$690.00
Deafness, Autosomal Recessive 35 (DFNB35) via the ESRRB Gene$810.00$690.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene$990.00$690.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene$810.00$690.00
Deafness, Autosomal Recessive 49 (DFNB49) via the MARVELD2 Gene$810.00$690.00
Deafness, Autosomal Recessive 59 (DFNB59) via the DFNB59 Gene$990.00$690.00
Deafness, Autosomal Recessive 6 (DFNB6) via the TMIE Gene$540.00$690.00
Deafness, Autosomal Recessive 61 (DFNB61) via the SLC26A5 Gene$990.00$690.00
Deafness, Autosomal Recessive 63 (DFNB63) via the LRTOMT Gene$610.00$690.00
Deafness, Autosomal Recessive 67 (DFNB67) via the LHFPL5 Gene$490.00$690.00
Deafness, Autosomal Recessive 74 (DFNB74) via the MSRB3 Gene$680.00$690.00
Deafness, Autosomal Recessive 77 (DFNB77) via the LOXHD1 Gene$990.00$690.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via the TMPRSS3 Gene$870.00$690.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene$990.00$690.00
Deafness, Autosomal Recessive 91 (DFNB91) via the SERPINB6 Gene$610.00$690.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 18 (DFNB18) via the USH1C Gene$990.00$690.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$870.00$690.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via the CIB2 Gene$710.00$690.00

Deafness, X-Linked

Test Available Sequencing Del/Dup Other
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
Alport Syndrome (AS) Sequencing Panel$1540.00$840.00
Deafness, X-Linked 2 (DFNX2) via the POU3F4 Gene$540.00$690.00
Deafness, X-Linked 4 (DFNX4) via the SMPX Gene$490.00$690.00
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene$990.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
PRPS1-Related Disorders$680.00$690.00

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

Deficiency Of Butyryl-CoA Dehydrogenase

Test Available Sequencing Del/Dup Other
Hyperammonemia Sequencing Panel$1690.00$1670.00
Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene$730.00$690.00

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

Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene$990.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Dihydrolipoamide dehydrogenase deficiency

Test Available Sequencing Del/Dup Other
Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene$840.00$690.00
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

Enlarged Vestibular Aqueduct Syndrome

Test Available Sequencing Del/Dup Other
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the FOXI1 Gene$580.00
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the KCNJ10 Gene$540.00$690.00
Pendred Syndrome and Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) via the SLC26A4 Gene$990.00$690.00

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

Glutaric Aciduia

Test Available Sequencing Del/Dup Other
Glutaric Acidemia Type I via the GCDH Gene$790.00$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

Heterotaxy

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy via the LEFTY2 Gene$490.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene$810.00$690.00
X-linked Heterotaxy (HTX1) via the ZIC3 Gene$590.00$690.00

Homocystinuria

Test Available Sequencing Del/Dup Other
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
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

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

Hyperthyroidism

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$990.00$690.00

Hypothyroidism

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene$870.00$690.00
Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene$780.00$690.00
Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via the TSHB Gene$440.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$990.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00

Hypothyroidism, Congenital

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$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

Jensen Syndrome

Test Available Sequencing Del/Dup Other
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene$490.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Johanson-Blizzard Syndrome

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Johanson-Blizzard Syndrome via the UBR1 Gene$990.00$690.00

Kallmann Syndrome

Test Available Sequencing Del/Dup Other
CHARGE and Kallmann Syndromes Sequencing Panel$1440.00$730.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
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
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel$1540.00$1290.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via the PROK2 Gene$580.00$690.00
Kallmann Syndrome Sequencing Panel$1440.00$770.00
Kallmann Syndrome via the KAL1(ANOS1) Gene$990.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00

Keratitis-Ichthyosis-Deafness Syndrome

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00

Keratoderma Palmoplantar deafness

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00

Klein-Waardenberg's Syndrome

Test Available Sequencing Del/Dup Other
Waardenburg Syndrome Types I and III via the PAX3 Gene$680.00$690.00

Knuckle Pads, Deafness And Leukonychia Syndrome

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$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

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Test Available Sequencing Del/Dup Other
Hyperammonemia Sequencing Panel$1690.00$1670.00
Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene$750.00$690.00

Melanoma

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Melanoma Predisposition via the CDK4 Gene$680.00$690.00
Melanoma Predisposition via the CDKN2A Gene$540.00$690.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
PTEN Hamartoma Tumor Syndrome via the PTEN Gene$810.00$690.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00

Methionine Adenosyltransferase Deficiency

Test Available Sequencing Del/Dup Other
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
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

Methylmalonic Aciduria and Homocystinuria

Test Available Sequencing Del/Dup Other
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
Transcobalamin II Deficiency via the TCN2 Gene$940.00

Mohr-Tranebjaerg Syndrome

Test Available Sequencing Del/Dup Other
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene$490.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

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

Oculodentodigital Dysplasia

Test Available Sequencing Del/Dup Other
OculoDentoDigital Dysplasia (ODDD) via the GJA1 Gene$250.00$690.00

Omenn Syndrome

Test Available Sequencing Del/Dup Other
Omenn Syndrome Sequencing Panel$1390.00$840.00
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene$990.00$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

Pendred's Syndrome

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Test Available Sequencing Del/Dup Other
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Waardenburg Syndrome Types IIE and IVC via the SOX10 Gene$680.00$690.00

Phenylketonuria

Test Available Sequencing Del/Dup Other
Hyperphenylalaninemia Sequencing Panel$1440.00$770.00
Phenylalanine Hydroxylase Deficiency via the PAH Gene$810.00$690.00

Pili Torti-Deafness Syndrome

Test Available Sequencing Del/Dup Other
Bjornstad Syndrome via the BCS1L Gene$650.00
Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes)$1650.00

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

Propionic Acidemia

Test Available Sequencing Del/Dup Other
Hyperammonemia Sequencing Panel$1690.00$1670.00
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

Septo-optic Dysplasia

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
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
HESX1-Related Disorders via the HESX1 Gene$580.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00

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

Severe Immunodeficiency

Test Available Sequencing Del/Dup Other
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

Sickle Cell Anemia

Test Available Sequencing Del/Dup Other
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene$490.00

Situs Inversus

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Heterotaxy, Visceral 5 (HTX5) via the NODAL Gene$580.00$690.00

Tetralogy of Fallot

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene$580.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the ZFPM2 (FOG2) Gene$930.00$690.00

Thalassemias

Test Available Sequencing Del/Dup Other
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene$490.00

Thyroid Dyshormonogenesis

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOXA2 Gene$610.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the IYD/DEHAL1 Gene$650.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene$990.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Thyroid Hormone Resistance

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Thyroid Hormone Resistance via the THRB Gene$710.00$690.00

Thyrotropin-Releasing Hormone Deficiency

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via the TRH Gene$540.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Transposition Of The Great Arteries, Dextro-Looped 3

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene$580.00$690.00

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

Usher Syndrome

Test Available Sequencing Del/Dup Other
Usher Syndrome Sequencing Panel$1590.00$1290.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via the CDH23 Gene$990.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 18 (DFNB18) via the USH1C Gene$990.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 23 (DFNB23) via the PCDH15 Gene$1190.00$690.00
Usher Syndrome Type 1 via the USH1G Gene$580.00$690.00
Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene$990.00$690.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$870.00$690.00
Usher Syndrome Type 2 via the ADGRV1 (GPR98) Gene$990.00$690.00
Usher Syndrome Type 2 via the USH2A Gene$1190.00$690.00
Usher Syndrome Type 2C and Deafness, Autosomal Recessive 57 (DFNB57) via the PDZD7 Gene$990.00$690.00
Usher Syndrome Type 3 via the CLRN1 Gene$490.00$690.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via the CIB2 Gene$710.00$690.00

Ventricular Septal Defect

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene$650.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Test Available Sequencing Del/Dup Other
Hyperammonemia Sequencing Panel$1690.00$1670.00
Very Long Chain Acyl-CoA Dehydrogenase Deficiency via the ACADVL Gene$750.00$690.00

Vohwinkel syndrome

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00

Waardenburg Syndrome

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene$680.00$690.00
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00
Waardenburg Syndrome Type IID via the SNAI2 Gene$540.00$690.00
Waardenburg Syndrome Type IVA via the EDNRB Gene$680.00$690.00
Waardenburg Syndrome Type IVB via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Types I and III via the PAX3 Gene$680.00$690.00
Waardenburg Syndrome Types IIE and IVC via the SOX10 Gene$680.00$690.00

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