NGS analysis - Limb reduction defects

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GENE / VARIANT / LOCUS
ADAMTSL2, ALPL, ANKRD11, ARHGAP31, ARID1A, ARID1B, ATR, B3GLCT, BMP2, BMPR1B, BRIP1, CC2D2A, CDH3, COL2A1, DHODH, DLL4, DLX5, DOCK6, DVL1, DYM, DYNC1I1, EIF4A3, EOGT, ERCC4, ESCO2, EVC, EVC2, FAM58A/CCNQ, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBLN1, FBXW4, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FMN1, GDF5, GJA1, GLI3, GNAS, GREM1, HDAC4, HDAC8, HOXD13, CHSY1, IHH, KDM6A, KIF7, KMT2A, KMT2D, KYNU, LMBR1/ZRS, LRP4, MGP, MKS1, MMP13, MYCN, NIPBL, NOG, NOTCH1, NSDHL, PALB2, PIGV, PITX1, POLL, PTHLH, PUF60, RAD21, RAD51C, RBM8A, RBPJ, RECQL4, ROR2, RPGRIP1L, RPL11, RPS19, RUNX2, SALL1, SALL4, SF3B4, SHH, SLX4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SOX9, TBX15, TBX3, TBX5, THPO, TP63, TRPV4, UBE2T, WNT10B, WNT3, WNT5A, WNT7A, XRCC2
SPECIALIZATIONS
Dysmorphology
Dysmorphology
Pediatrics
Pediatrics
METHODOLOGY
TAT (DAYS)
365 calendar days
OMIM CODE (GENE/LOCUS)
OMIM CODE (FENOTYPE)
RefSNP ID
ACCREDITATION
No
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
Peripheral blood ≥ 3 ml K3/K2 EDTA Room temp. 5
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5
Peripheral blood ≥ 3 ml K3/K2 EDTA Room temp. 5

1 If it is not possible to collect the minimum volume for the test, please contact Unilabs Genetics

2 Maximum shipping time to ensure sample quality

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