Number of Panel Genes: 
28

Inherited ichthyoses are clinically and genetically heterogeneous group of disorders of cornification. Ichthyosis  vulgaris and X-linked recessive ichthyosis, are the most common ichthyoses. In these disorders, scaling of the skin usually begins after 2 to 6 monread more

Tests Available

28 Panel Genes: ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5
Next Generation Sequencing
$1,420
Test Code: 5091
Deletion / Duplication
$990
Test Code: 5092
Deletion/Duplication test is not available for FLG
NGS/Del Dup Comprehensive
$1,795
Test Code: 5093
Deletion/Duplication test is not available for FLG

Test Details

Technical Information
Panel Genes: 
ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,420
CPT Codes: 
81479 x 28
Ordering
SKU:
5091
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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