Number of Panel Genes: 
47

Connective tissue disorder panel focuses mainly on disorders of soft connective tissues including skin, ligaments, tendons, and vascular tissues. The panel includes various related disorders such as Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Marfan syndrome, and thoracic aortic aneurysms.

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Tests Available

47 Panel Genes: ACTA2, ADAMTS2, AEBP1, ATP7A, B3GALT6, B3GALT7, BGN, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, DCHS1, DSE, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, LOX, LTBP3, MAT2A, MFAP5, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
Next Generation Sequencing
$1,400
Test Code: 5433
Deletion / Duplication
$990
Test Code: 5434
NGS/Del Dup Comprehensive
$1,600
Test Code: 5435

Test Details

Technical Information
Panel Genes: 
ACTA2, ADAMTS2, AEBP1, ATP7A, B3GALT6, B3GALT7, BGN, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, DCHS1, DSE, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, LOX, LTBP3, MAT2A, MFAP5, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Lung Diseases
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,400
CPT Codes: 
81405 x 3
81406 x 2
81407 x 1
81408 x 4
81479 x 37
Ordering
SKU:
5433
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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