Test Directory

Clear All
Test Code
5226
Test Name
Thrombocytopenia NGS Panel
CPT Codes
81406, 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

Thrombocytopenia is a hematological disorder characterized by reduced number of platelets and a bleeding tendency. The symptoms include easy or excessive bruising, prolonged bleeding, bleeding from gums or nose, heavy menstrual flows, and blood in urine or stools. Thrombocytopenia can be inherited or it may be caused by a number of medications or conditions. Inherited thrombocytopenia is genetically heterogeneous and the inheritance pattern includes autosomal dominant, autosomal recessive or X-linked. Connective Tissue Gene Tests Thrombocytopenia NGS panel consists of twenty-six genes. Mutations in these genes cause non-syndromic or syndromic thrombocytopenia.

The Thrombocytopenia NGS panel consists of twenty-eight genes: ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, GBA, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SMPD1, SRC, TBXAS1, TUBB1, WAS and WIPF1.

Gene

Disorder

MIM

Inheritance

ADAMTS13

Thrombotic thrombocytopenic purpura, congenital (TTP)

274150

AR

ANKRD26

Thrombocytopenia 2 (THC2)

188000

AD

AP3B1

Hermansky-Pudlak syndrome 2 (HPS2)

608233

AR

CYCS

Thrombocytopenia 4 (THC4)

612004

AD

ETV6

Thrombocytopenia 5 (THC5)

616216

AD

FLI1

Excessive bleeding and platelet dense granule secretion defects

Thrombocytopenia, Paris-Trousseau type (TCPT)

-

188025

AD

AD

FYB

Thrombocytopenia, FYB related

-

AR

GATA1

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities (XLANP)

Thrombocytopenia with beta-thalassemia, X-linked (XLTT)

Thrombocytopenia, X-linked, with or without dyserythropoietic anemia (XLTDA)

300835

314050

300367

XLR

XLR

XLR

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

HOXA11

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1)

605432

AD

ITGA2B

Bleeding disorder, platelet-type, 16 (BDPLT16)

Glanzmann thrombasthenia (GT)

187800

273800

AD

AR

ITGB3

Bleeding disorder, platelet-type, 16 (BDPLT16)

Glanzmann thrombasthenia (GT)

187800

273800

AD

AR

LYST

Chediak Higashi syndrome (CHS)

214500

AR

MASTL

Thrombocytopenia 2 (THC2)

188000

AD

MECOM

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2)

616738

AD

MPL

Amegakaryocytic thrombocytopenia, congenital (CAMT)

604498

AR

MYH9

Epstein syndrome (EPSTNS)

Fechtner syndrome (FTNS)

Macrothrombocytopenia and progressive sensorineural deafness

May-Hegglin anomaly (MHA)

Sebastian syndrome (SBS) 

153650

153640

600208

155100

605249

AD

AD

AD

AD

AD

NBEAL2

Gray platelet syndrome (GPS)

139090

AR

PRKACG

Bleeding disorder, platelet-type, 19 (BDPLT19)

616176

AR

RBM8A

Thrombocytopenia-absent radius syndrome (TAR)

274000

AR

RUNX1

Platelet disorder, familial, with associated myeloid malignancy (FPDMM)

601399

AD

SLFN14

Bleeding disorder, platelet-type, 20 (BDPLT20)

616913

AD

SMPD1

Niemann-Pick disease, type A

Niemann-Pick disease, type B

257200

607616

AR

AR

SRC

Thrombocytopenia 6 (THC6)

616937

AD

TBXAS1

Bleeding disorder, platelet-type, 14 (BDPLT14) / Thromboxane synthase deficiency

Ghosal hematodiaphyseal syndrome (GHDD)

614158

231095

AD

AR

TUBB1

Macrothrombocytopenia, autosomal dominant, TUBB1-related

613112

AD

WAS

Thrombocytopenia 1 (THC1) 

Wiskott-Aldrich syndrome 1 (WAS1)

313900

301000

XLR

XLR

WIPF1

Wiskott-Aldrich syndrome 2 (WAS2)

614493

AR
Testing Schedule
Monday-Friday
Genes
ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, GBA, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SMPD1, SRC, TBXAS1, TUBB1, WAS, WIPF1
Disease Group
Hematological
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
© 2026 HNL Lab Medicine. All rights reserved.