Number of Panel Genes: 
9

 Xeroderma pigmentosum is a rare autosomal recessive genodermatosis caused by a genetic defect in components of the nucleotide excision repair pathway. It is characterized by extreme sensitivity to ultraviolet light which leads to the development of multiple skin cancers. Other common findings include photophobia, conjunctivitis, keratitis, skin photosensitivity, and atrophy of the skin. Approximately 25 to 30% of individuals with XP have neurological abnormalities.read more

Tests Available

9 Panel Genes: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Next Generation Sequencing
$1,100
Test Code: 5388
Deletion / Duplication
$990
Test Code: 5389
NGS/Del Dup Comprehensive
$1,300
Test Code: 5390

Test Details

Technical Information
Panel Genes: 
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,100
CPT Codes: 
81479 x 9
Ordering
SKU:
5388
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: 4 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: 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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