Genomic Unity® Prenatal Analysis

Conditions considered:

 Condition Gene(s)
17-alpha-hydroxylase / 17,20-lyase deficiencyCYP17A1
17-beta hydroxysteroid dehydrogenase III deficiencyHSD17B3
3-beta-hydroxysteroid dehydrogenase deficiency (Adrenal hyperplasia, congenital)HSD3B2
3-hydroxy-3-methylglutaryl-CoA lyase deficiencyHMGCL
3-hydroxyacyl-CoA dehydrogenase deficiencyHADH
3-Methylcrotonyl-CoA carboxylase 1 deficiencyMCCC1
3-Methylcrotonyl-CoA carboxylase 2 deficiencyMCCC2
3-methylglutaconic aciduria type IIIOPA3
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)SERAC1
46 XX sex reversalNR5A1, SRY
46 XY partial gonadal dysgenesis, with minifascicular neuropathyDHH
46 XY sex reversalDHH, NR0B1, NR5A1, SRY, ZFPM2
Aarskog-Scott syndromeFGD1
ABCD syndromeEDNRB
Achalasia-addisonianism-alacrimia syndromeAAAS
Achondrogenesis, type IATRIP11
Achondrogenesis, type IBSLC26A2
Achondrogenesis, type IICOL2A1
Acro-dermato-ungual-lacrimal-tooth syndromeTP63
Acrocallosal syndromeKIF7
Acrodermatitis enteropathica, zink-deficiency typeSLC39A4
Acromesomelic dysplasia, Hunter-Thompson typeGDF5
Acromicric dysplasiaFBN1
Adams-Oliver syndromeNOTCH1
Adenosine deaminase 2 deficiency (Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome)CECR1
Adenosine deaminase deficiency, severe combined immunodeficiencyADA
Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiencyCYP11B1
Adrenal hypoplasia, congenitalNR0B1
Adrenal insufficiency, congenital, with 46 XY sex reversalCYP11A1
Adrenocortical insufficiencyNR5A1
Agenesis of the corpus callosum with peripheral neuropathySLC12A6
Aicardi-Goutieres syndromeRNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
Al-Awadi-Raas-Rothschild syndrome (Absence of ulna and fibula with severe limb deficiency)WNT7A
Al-Gazali-Bakalinova syndromeKIF7
Alagille syndromeJAG1
Albinism, oculocutaneous type IA, IBTYR
Albinism, oculocutaneous, type IIOCA2
Albinism, oculocutaneous, type IIITYRP1
Albinism, oculocutaneous, type IVSLC45A2
Allan-Herndon-Dudley syndromeSLC16A2
Alopecia-intellectual disability syndromeLSS
Alpha thalassemia X-linked intellectual disability syndromeATRX
Alpha-1-antitrypsin deficiencySERPINA1
 Condition Gene(s)

Please do not submit Protected Health Information (PHI) through this email address.

If you need to submit Protected Health Information (PHI), please call us at 617-209-2090 and we will work with you to submit the information through an alternate mechanism.

Otherwise, please continue: