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Genetic carrier test (NGS panel of 101 genes)

Rare diseases, Obstetrics / Gynecology /PND,

Methodology

NGS

Sample requirements

Descriptive Volume / Concentration Tube / bracket type Transport Temperature Sample viability (days)
DNA
≥ 100 µL [50 ng/µL]
Eppendorf Safe-lock
Room temp.
n/a

Response time (days)

45

Gene

ABCC8, ACADM, ACADS, ACADVL, AGA, AGL, AGXT, AIRE, ALDH3A2, ALDOB, ALPL, ARSA, ASPA, ASS1, ATM, ATP7B, BBS1, BBS10, BCHE, BCKDHB, BCS1L, BLM, BTD, CBS, CFTR, CHM, CLN3, CLN5, CLN8, CLRN1, CNGB3, COX6A1, CPT1A, CPT2, CTNS, CTSK, DHCR7, DLD, DPYD, F11, FAH, FANCC, G6PC, GAA, GALC, GALT, GBA, GCDH, GJB2, GNE, GRHPR, HADHA, HBB, HEXA, HGD, HSD17B4, IDUA, IKBKAP, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MCOLN1, MEFV, MLC1, MPI, NBN, NEB, NPC1, NPHS1, NPHS2, OPA3, PAH, PCDH15, PEX1, PEX7, PKHD1, PMM2, POMGNT1, PPT1, PROP1, PYGM, RMRP, RS1, SACS, SERPINA1, SGCA, SGCB, SLC12A6, SLC17A5, SLC22A5, SLC26A2, SLC26A4, SLC37A4, SMPD1, TH, TMEM216, TPP1, TTPA, VPS13B
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