Genomic Unity® Prenatal Analysis

Conditions considered:

 Condition Gene(s)
Alpha-mannosidosis / Mannosidosis, alpha-, types I and IIMAN2B1
Alpha-methylacetoacetic aciduriaACAT1
Alpha-thalassemiaHBA1, HBA2
Alport syndromeCOL4A3, COL4A4, COL4A5
Alstrom syndromeALMS1
Alveolar capillary dysplasia with misalignment of pulmonary veinsFOXF1
Amegakaryocytic thrombocytopenia, congenitalMPL
Anauxetic dysplasiaPOP1, RMRP
Andersen-Tawil syndromeKCNJ2
Androgen insensitivityAR
Anemia, nonspherocytic hemolytic, due to G6PD deficiencyG6PD
Angelman syndromeUBE3A
Ankyloblepharon-ectodermal defects-cleft lip/palate (Hay-Wells syndrome)TP63
Antenatal Bartter syndrome, type 1SLC12A1
Anterior segment dysgenesisPITX2
Anterior segment dysgenesis, multiple subtypesFOXC1, PAX6
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesisPOR
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2
Aortic valve diseaseNOTCH1
Apert syndromeFGFR2
Argininemia (Arginase deficiency)ARG1
Argininosuccinic aciduriaASL
Aromatase deficiencyCYP19A1
Aromatase excess syndromeCYP19A1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defectLGI4
Arthrogryposis, distal, multiple typesPIEZO2
Arthrogryposis, distal, type 1BMYBPC1
Arthrogryposis, distal, type 2A, 2B3MYH3
Arthrogryposis, distal, type 2B1TNNI2
Arthrogryposis, distal, type 2B2TNNT3
Arthrogryposis, distal, type 2B4TPM2
Arthrogryposis, distal, type 5DECEL1
Arts syndromePRPS1
Asparagine synthetase deficiencyASNS
Ataxia with isolated vitamin E deficiencyTTPA
Ataxia-telangiectasia-like disorderMRE11A
Atelosteogenesis, type IISLC26A2
Atelosteogenesis, type IIIFLNB
Atrial septal defectGATA4, GATA6
Atrial septal defect with or without atrioventricular conduction defectsNKX2-5
Atrioventricular septal defectGATA4, GATA6, GJA1
Autism spectrum disorder-epilepsy-arthrogryposis syndromeSLC35A3
Autoimmune polyendocrinopathy syndrome, type IAIRE
Autoimmune thyroid disease, susceptibilityTG
Axenfeld-Rieger syndrome, type 1PITX2
Axenfeld-Rieger syndrome, type 3FOXC1
Baraitser-Winter syndromeACTB, ACTG1
 Condition Gene(s)

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