Platelet Bleeding Disorders NGS Panel

Test Code

5156

Test Name

Platelet Bleeding Disorders NGS Panel

CPT Codes

81479

Expected Turnaround Time

Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Clinical Utility

Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.

Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate	Specimen Type	Containers	Volume
Preferred Specimen Type	Whole Blood	Lavender Top (EDTA)	3 mL
Alternate Specimen Type	Genomic DNA	1.5 mL Tube	3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.
Alternate Specimen Type	Fibroblasts	T-25 Flasks	2 confluent T-25 flasks, filled to capacity
Alternate Specimen Type	Saliva (Whole blood is recommended for CNV)	DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children	Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type	Containers	Volume
Cultured cells	T-25 Flasks	2 confluent T-25 flasks derived from amnio or CVS samples.
Genomic DNA	1.5 mL Tube	3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

Transport Instructions

Transport at room temperature within 24 hours.
If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.

Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours

Causes for Rejection

Improperly labeled specimen (minimum of two patient identifiers)
Inappropriate specimen type
Incomplete or incorrect test request form
Insufficient volume
Specimen has leaked in transit
Specimen without a test order

Methodology

Next Generation Sequencing and Copy Number Variation Analysis

Performing Location

Genomics - Snowdrift

Description

The 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. Typical clinical findings include excessive mucocutaneous bleeding, including menorrhagia, easy bruising, epistaxis and prolonged bleeding after surgery or trauma.

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, Xlinked Thrombocytopenia, Xlinked Thrombocytopenia, Xlinked, 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

Testing Schedule

Monday-Friday

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 Group

Hematological

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