Number of Panel Genes: 
19

Inherited ichthyoses are a clinically and genetically heterogeneous group of disorders of cornification. Ichthyosis can be syndromic or nonsyndromic. This panel is designed to detect mutations in genes that cause nonsyndromic ichthyosis. The most common ichthyoses, Ichthyosis  vulgaris and recessive X-linked ichthyosis, are caused by mutations in the FLG and STS genes, respectively. In these disorders, scaling of the skin usually begins after 2 to 6 months.read more

Tests Available

19 Panel Genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, FLG, GJA1, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, STS, TGM1
Next Generation Sequencing
$1,400
Test Code: 5091
Deletion / Duplication
$1,150
Test Code: 5092
HDT Array test is not available for FLG
NGS/Del Dup Comprehensive
$2,400
Test Code: 5093
HDT Array test is not available for FLG

Test Details

Technical Information
Panel Genes: 
ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, FLG, GJA1, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, STS, TGM1
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
146700
308100
242300
242100
606545
601277
242500
604777
612281
613943
615024
113800
146800
604117
133200
601952
615023
133200
Billing
Price: 
$1,400
CPT Codes: 
81479 x 19
Ordering
SKU:
5091
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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