Forms and Documents
Test Details
Expand Genes
ANKRD11, ARHGAP31, ARID1A, ARID1B, BHLHA9, BMP2, BMPR1B, BTRC, CC2D2A, CDH3, CEP290, CHSY1, DLL4, DLX5, DOCK6, DPCD, DVL1, DVL3, DYNC1I1, EOGT, ESCO2, FBXW4, FGF10, FGF16, FGFR1, FGFR2, FGFR3, GDF5, GLI3, GNAS, HDAC4, HDAC8, HOXD13, IHH, KIF7, KMT2A, LBX1, LMBR1, LRP4, MGP, MKS1, MYCN, NIPBL, NOG, NOTCH1, NSDHL, PHF6, PIGV, POLL, PTHLH, RAD21, RBM8A, RBPJ, RECQL4, ROR2, RPGRIP1L, SALL1, SALL4, SHH, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SOX9, TBX15, TBX3, TBX5, THPO, TP63, WNT10B, WNT3, WNT5A, WNT7A
- Adams-Oliver syndrome
- Al-Awadi-Raas-Rothschild syndrome
- Cenani-Lenz syndrome
- CHILD syndrome
- Ciliopathies
- Coffin-Siris syndrome
- Cornelia de Lange Syndrome
- Cousin syndrome
- Duane-Radial Ray syndrome
- Ectrodactyly/Split Hand-Split Foot Malformation
- Feingold Syndrome
- Holt-Oram syndrome
- Keutel syndrome
- Lacrimo-Auriculo-Dental-Digital syndrome
- Mabry syndrome
- Multiple syndromes associated with pathogenic variants in the TP63 gene
- Robert’s syndrome
- Robinow Syndrome
- Rothmund-Thomson/RAPADILINO syndrome
- Thrombocytopenioa with Absent Radii (TAR) syndrome and non-syndromic abnormalities
- Townes-Brocks Syndrome
- Ulnar-mammary syndrome
- Wolff-Parkinson-White Syndrome
- Molecular confirmation of a clinical diagnosis
- Distinguish between causes of slimb abnormalities
- Genetic counseling
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
- Next-Gen Sequencing
- Deletion/Duplication Analysis
Ordering
TA42
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs | Extracted DNA
Billing
81404x2; 81405x1; 81407x1; 81408x1
No
Yes
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