Number of Panel Genes:
34
Connective Tissue Gene Tests Platelet bleeding disorders NGS panel consists of thirty-four genes: ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, SMPD1,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
34 Panel Genes: ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Next Generation Sequencing
$1,300
Test Code: 5154
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Deletion / Duplication
$990
Test Code: 5155
Del / Dup not available for PRKACG
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NGS/Del Dup Comprehensive
$1,500
Test Code: 5156
Del / Dup not available for PRKACG
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Test Details
Technical Information
Panel Genes:
ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Disease Groups:
Hematological Disorders
Billing
CPT Codes:
81404 x 1
81406 x 1
81408 x 1
81479 x 1
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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.