Coffin-Siris syndrome

Forms and Documents

Test Details

ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX11
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of Coffin-Siris Syndrome
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T993
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Schrier Vergano S, Santen G, Wieczorek D, et al. Coffin-Siris Syndrome. 2013 Apr 4 [Updated 2018 Feb 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  2. Tsurusaki et al. (2012) Nature Genetics 44 (4):376-8 (PMID: 22426308)
  3. Van et al. (2012) Nature Genetics 44 (4):445-9, S1 (PMID: 22366787)
  4. Tsurusaki et al. (2014) Nature Communications 5 :4011 (PMID: 24886874)
  5. Wieczorek et al. (2013) Hum. Mol. Genet. 22 (25):5121-35 (PMID: 23906836)

Forms and Documents

Test Details

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
  • 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
* For price inquiries please email zebras@genedx.com