Genomic Unity® Prenatal Analysis

Conditions considered:

 Condition Gene(s)
Bardet-Biedl syndromeBBS1, BBS2, BBS10, BBS12, CEP290, MKS1, TRIM32
Bardet-Biedl syndrome (modifier)TMEM67
Bare lymphocyte syndrome, type IICIITA
Bart-Pumphrey syndromeGJB2
Barth syndromeTAZ
Bartsocas-Papas syndrome / Popliteal pterygium syndrom, lethal typeRIPK4
Bartter syndrome, type 2KCNJ1
Bartter syndrome, type 4aBSND
Basal cell nevus syndromePTCH1
Beare-Stevenson cutis gyrata syndromeFGFR2
Beckwith-Wiedemann syndromeCDKN1C, H19, KCNQ1OT1
Bent bone dysplasia syndromeFGFR2
Bernard-Soulier syndrome, type A1, A2GP1BA
Bernard-Soulier syndrome, type CGP9
Biotinidase deficiencyBTD
Bjornstad syndromeBCS1L
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner typeFGFR2
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner typeMED12
Bloom syndromeBLM
Bone marrow failure syndromeTP53
Boomerang dysplasiaFLNB
Borjeson-Forssman-Lehmann syndromePHF6
Bothnia retinal dystrophyRLBP1
Brachydactyly, multiple typesGDF5, HOXD13
Brachydactyly, type B1ROR2
Branchiootic syndromeEYA1, SIX1
Branchiootorenal syndromeEYA1, SIX1
Bronchiectasis (modifier)CFTR
Bruck syndromeFKBP10, PLOD2
Brugada syndromeCACNA1C, SCN5A
Brunner syndromeMAOA
Buschke-Ollendorff syndrome, Osteopoikilosis with or without melorheostosisLEMD3
Caffey diseaseCOL1A1
Campomelic dysplasiaSOX9
Camptodactyly, tall stature, and hearing loss syndromeFGFR3
Canavan diseaseASPA
CAP myopathyTPM2, TPM3
Carbamoylphosphate synthetase I deficiencyCPS1
Cardiac valvular dysplasiaFLNA
Cardiofaciocutaneous syndromeBRAF, MAP2K1, MAP2K2, KRAS
Cardiomyopathy, dilatedABCC9, FKTN, LMNA, MYH7, SCN5A, SDHA, SGCD, TNNI3, TPM1, TNNC1, TNNT2
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism / Malouf syndromeLMNA
Cardiomyopathy, familial hypertrophicMYH7, TNNC1
Cardiomyopathy, familial restrictiveTNNI3, TNNT2
Cardiomyopathy, hypertrophicMYH7
Carnitine deficiency, systemic primarySLC22A5
Carnitine palmitoyltransferase I deficiencyCPT1A
Carnitine palmitoyltransferase II deficiencyCPT2
Carnitine-acylcarnitine translocase deficiencySLC25A20
 Condition Gene(s)

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