Number of Panel Genes: 
21

Progeroid syndromes and related disorders consist of a wide variety of conditions that are characterized by premature aging or have features of premature aging. Typical features include aged appearance due to reduced subcutaneous fat, wrinkled skin, loose redundant skin, prominent veins, and thin, sparse hair. The more severe progeria findings, premature death due to cardiovascular problems, renal failure or cancer susceptibility, are present in some of these disorders.

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Tests Available

21 Panel Genes: AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24
Next Generation Sequencing
$1,220
Test Code: 5379
Deletion / Duplication
$990
Test Code: 5380
NGS/Del Dup Comprehensive
$1,595
Test Code: 5381

Test Details

Technical Information
Panel Genes: 
AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,220
CPT Codes: 
81406 x 2
81408 x 1
81479 x 18
Ordering
SKU:
5379
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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