Genomic Unity® Prenatal Analysis

Conditions considered:

 Condition Gene(s)
Achalasia-addisonianism-alacrimia syndromeAAAS
Ichthyosis, congenitalABCA12, TGM1
Cholestasis, progressive familial intrahepaticABCB11
Pseudoxanthoma elasticumABCC6
Generalized arterial calcification of infancyABCC6
Hypoglycemia of infancy, leucine-sensitiveABCC8
Diabetes mellitus, neonatal (permanent, transient)ABCC8
Hyperinsulinemic hypoglycemia, familialABCC8, HADH, INSR, KCNJ11
Hypertrichotic osteochondrodysplasiaABCC9
Familial atrial fibrillationABCC9
Cardiomyopathy, dilatedABCC9, FKTN, LMNA, MYH7, SCN5A, SDHA, SGCD, TNNI3, TPM1, TNNC1, TNNT2
AdrenoleukodystrophyABCD1
Isobutyryl-CoA dehydrogenase deficiencyACAD8
Mitochondrial complex I deficiency, nuclear type 20ACAD9
Medium-chain acyl-CoA dehydrogenase deficiencyACADM
Short-chain acyl-CoA dehydrogenase deficiencyACADS
2-methylbutyrylglycinuriaACADSB
Very long-chain acyl-CoA dehydrogenase deficiencyACADVL
Alpha-methylacetoacetic aciduriaACAT1
Peroxisomal acyl-CoA oxidase deficiencyACOX1
Mitchell syndromeACOX1
Combined malonic and methylmalonic aciduriaACSF3
Myopathy, scapulohumeroperonealACTA1
Nemaline myopathyACTA1, KLHL40, LMOD3, NEB, TNNT1, TPM2, TPM3
Myopathy, congenital, with fiber-type disproportionACTA1, SEPN1, TPM3
Baraitser-Winter syndromeACTB, ACTG1
Adenosine deaminase deficiency, severe combined immunodeficiencyADA
Ehlers-Danlos syndrome, dermatosparaxis typeADAMTS2
Polymicrogyria, bilateralADGRG1
FRAXE intellectual disabilityAFF2
AspartylglucosaminuriaAGA
Glycogen storage diseaseAGL, G6PC, GAA, GBE1, PFKM, SLC37A4
Rhizomelic chondrodysplasia punctata, type 3AGPS
Hyperoxaluria, primary, type 1AGXT
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiencyAHCY
Joubert syndromeAHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2, C5ORF42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, FAM149B1, INPP5E, KATNIP, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PIBF1, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67
Autoimmune polyendocrinopathy syndrome, type IAIRE
Sjogren-Larsson syndromeALDH3A2
Succinic semialdehyde dehydrogenase deficiencyALDH5A1
Epilepsy, pyridoxine-dependentALDH7A1
Fructose intolerance, hereditaryALDOB
Congenital disorder of glycosylation, type IcALG6
Alstrom syndromeALMS1
Hypophosphatasia, childhood/infantileALPL
Frontonasal dysplasiaALX4
Craniosynostosis, susceptibilityALX4
Osteopathia striata with cranial sclerosisAMER1
Imerslund-Grasbeck syndromeAMN
Pontocerebellar hypoplasia, type 9AMPD2
Spastic paraplegiaAMPD2, PLP1, TECPR2, ZFYVE26
 Condition Gene(s)

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