Ablepharon-macrostomia syndrome (AMS; MIM 200110) and Barber-Say syndrome (BBRSAY; MIM 209885) are clinically overlapping ectodermal dysplasias. AMS is characterized by absent eyelids, macrostomia, microtia, abnormally shaped ears and nose, absence of lanugo, redundant skin, and abnormalities of the nipples, genitalia, fingers, and more

Tests Available

By gene: TWIST2
Sanger Sequencing
Test Code: 2147
Deletion / Duplication
Test Code: 2148
NGS/Del Dup Comprehensive
Test Code: 2149

Test Details

Technical Information
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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