Platelet bleeding disorders NGS panel

Number of Panel Genes:

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

Copy number variation (CNV) analysis of the Platelet bleeding disorder genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.

Gene	Disorder	MIM	Inheritance
ACTN1	Bleeding disorder, platelet‑type, 15	615193	AD
ANO6	Scott syndrome	262890	AR
AP3B1	Hermansky‑Pudlak syndrome 2	608233	AR
BLOC1S3	Hermansky‑Pudlak syndrome 8	614077	AR
BLOC1S6	Hermansky‑Pudlak syndrome 9	614071	AR
CD36	Platelet glycoprotein IV deficiency	608404	AR
DTNBP1	Hermansky‑Pudlak syndrome 7	614076	AR
GBA	Gaucher disease, perinatal lethal Gaucher disease, type I Gaucher disease, type II Gaucher disease, type III Gaucher disease, type IIIC	608013 230800 230900 231000 231005	AR AR AR AR AR
GFI1B	Bleeding disorder, platelet‑type, 17	187900	AD
GP1BA	Bernard‑Soulier syndrome, type A1 Bernard‑Soulier syndrome, type A2 von Willebrand disease, platelet‑type	231200 153670 177820	AR AD AD
GP1BB	Bernard‑Soulier syndrome, type B Giant platelet disorder, isolated	231200 231200	AR
GP6	Bleeding disorder, platelet‑type, 11	614201	AR
GP9	Bernard‑Soulier syndrome, type C	231200	AR
HPS1	Hermansky‑Pudlak syndrome 1	203300	AR
HPS3	Hermansky‑Pudlak syndrome 3	614072	AR
HPS4	Hermansky‑Pudlak syndrome 4	614073	AR
HPS5	Hermansky‑Pudlak syndrome 5	614074	AR
HPS6	Hermansky‑Pudlak syndrome 6	614075	AR
ITGA2B	Glanzmann thrombasthenia Bleeding disorder, platelet-type, 16, autosomal dominant	273800 187800	AR AD
ITGB3	Glanzmann thrombasthenia Bleeding disorder, platelet-type, 16, autosomal dominant	273800 187800	AR AD
LYST	Chediak‑Higashi syndrome	214500	AR
MYH9	May‑Hegglin anomaly Fechtner syndrome Epstein syndrome Sebastian syndrome Macrothrombocytopenia and progressive sensorineural deafness	155100 153640 153650 605249 600208	AD
NBEAL2	Gray platelet syndrome	139090	AR
PLAU	Quebec platelet disorder	601709	AD
P2RY12	Bleeding disorder, platelet‑type, 8	609821	AR
PRKACG	Bleeding disorder, platelet‑type, 19	616176	AR
RASGRP2	Bleeding disorder, platelet‑type, 18	615888	AR
SLFN14	Bleeding disorder, platelet‑type, 20	616913	AD
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B	257200 607616	AR AR
TBXA2R	Bleeding disorder, platelet‑type, 13, susceptibility to	614009	AD
TBXAS1	Ghosal hematodiaphyseal syndrome	231095	AR
WAS	Neutropenia, severe congenital, X‑linked Thrombocytopenia, X‑linked Thrombocytopenia, X‑linked, intermittent Wiskott‑Aldrich syndrome	300299 313900 313900 301000	XLR
WIPF1	Wiskott-Aldrich syndrome 2	614493	AR
VWF	von Willebrand disease, type 1 von Willebrand disease, types 2A, 2B, 2M, and 2N von Willibrand disease, type 3	193400 613554 277480	AD AD/AR AR

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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

Test Code: 5154

Test Code: 5155

Del / Dup not available for PRKACG

Test Code: 5156

Del / Dup not available for PRKACG

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: