Number of Panel Genes: 

Lethal restrictive dermopathy (MIM 275210), also called lethal tight skin contracture syndrome, is an autosomal recessive disorder caused by mutations in the ZMPSTE24 gene. Some cases can be caused by heterozygous de novo mutations in the LMNA gene. Restrictive dermopathy is characterized by very thin and ridged skin, which results in restricted growth and movement of the underlying more

Tests Available

2 Panel Genes: LMNA, ZMPSTE24
Next Generation Sequencing
Test Code: 5382
Deletion / Duplication
Test Code: 5383
NGS/Del Dup Comprehensive
Test Code: 5384

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81406 x 1
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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