Number of Panel Genes: 
32

Connective Tissue Gene Tests Platelet bleeding disorders NGS panel consists of thirty-two genes: ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS and WIPF1. Defects in these genes result in defective platelet function and/or thrombocytopenia causing syndromic or non-syndromic bleeding disorders.read more

Tests Available

32 Panel Genes: ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Next Generation Sequencing
$1,520
Test Code: 5154
Deletion / Duplication
$990
Test Code: 5155
Del / Dup not available for PRKACG
NGS/Del Dup Comprehensive
$1,895
Test Code: 5156
Del / Dup not available for PRKACG

Test Details

Technical Information
Panel Genes: 
ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Disease Groups: 
Hematological Disorders
Billing
Price: 
$1,520
CPT Codes: 
81404 x 1
81406 x 1
81408 x 1
81479 x 29
Ordering
SKU:
5154
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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