Treacher Collins Syndrome (TCS)

The classic clinical features of Treacher Collins Syndrome (TCS) are present at birth and can include down-slanted palpebral fissures, lower eyelid coloboma and lower eyelash anomalies, hypoplasia of the zygomatic bones and mandible, preauricular hair growth, and ear anomalies of the middle and external ear, which can lead to conductive hearing loss. Inter- and intra- familial variable expressivity has been observed. TCS can be caused by mutations in the TCOF1 gene. GeneDx conducts bi-directional sequence analysis of the entire coding region (exons 1-26) and splice sites of the TCOF1 gene. If no mutation is found by sequencing, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons in the TCOF1 gene. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation has been identified.

Tests Available

Forms and Documents

Test Details

TCOF1
  • Confirmation of clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation in the TCOF1 gene
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

653
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.4 Coloboma and other anomalies of anterior segment
  • 389.00 Conductive hearing loss, unspecified
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
  • 524.10 Unspecified anomaly Prognathism Retrognathism
  • 738.12 Zygomatic hypoplasia
* For price inquiries please email zebras@genedx.com

References

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