Number of Panel Genes: 

Trichothiodystrophy (TTD) is a rare autosomal recessive condition characterized by brittle, sparse hair lacking sulfur. Tiger-tail-pattern hair characterized by alternating dark and light bands under polarizing microscopy, is diagnostic for TTD. Other common findings include short stature, growth retardation, ichthyosis, dysplastic nails, dystrophic teeth, cataract, intellectual deficit, and recurrent more

Tests Available

6 Panel Genes: ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A
Next Generation Sequencing
Test Code: 5385
Deletion / Duplication
Test Code: 5386
NGS/Del Dup Comprehensive
Test Code: 5387

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 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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