• Test Code:
    2250
  • Department:
  • Test Synonyms:
    A2MABCA1ANKRD26ANO6AP3B1Bernard-SoulierBLOC1S6CD36Coagulation disordersComprehensive Bleeding Disorder PanelDHCR24DPAGT1DTNBP1F2F5F7F8F9F10F11F13A1 F13BFERMT3FGAFGBFGGFLNAGATA1GFI1BGGCX;Glanzmann thromlastheniaGNAQGNASGP1BAGP6GP9Hermansky-PudlakHOXA11HPS1HPS3HPS4HPS5HPS6ITGA2ITGA2BITGB3KLKB1LMAN1LYSTMCFD2MASTLMLPHMPLMYH9MYO5ANBEAL2P2RX1P2RY12PLA2G4APLA2G7Platelet dysfunctionsPLAURAB27ARASGRP2RUNX1SERPINA1SERPINE1SERPINF2STIM1TBXA2RTBXAS1ThrombocytopeniaUSF1VIPAS39VKORC1Von Willebrand DiseaseVPS33BVWFWASWiskott-Aldrich
  • CPT Code(s):
    81406814078140881479x68
Background:

Inherited platelet disorders are a group of genetic conditions that cause excessive and uncontrollable bleeding. These life-threatening conditions cause complications following surgery, childbirth, trauma or internal hemorrhages. Pathogenic variants in genes encoding cytoskeletal proteins, platelet adhesions and signaling pathways triggering coagulation are analyzed in this next-generation sequencing-based panel test. The test also includes genes associated with Bernard-Soulier syndrome, Scott syndrome, Glanzmann’s thrombasthenia, Thromboxane A2 receptor deficiency, GP6 collagen receptor deficiency, and Hermansky-Pudlak syndrome. The mode of inheritance for platelet disorders is autosomal recessive or autosomal dominant. The overall incidence for inherited platelet disorders is estimated to be ~1:10,000. 

Reasons for Referral:

  • Abnormal bleeding or bruising,
  • Uncontrollable bleeding.
  • Positive family history for bleeding disorders (targeted testing is available if familial mutation is known.)
  • Carrier testing.

Methodology:

Next generation sequencing will analyze the exons or coding regions of 71 associated genes with platelet disorders using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter and intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function. Additionally, the assay does not assess coding regions with incomplete coverage some of which including regions of high homology (pseudogenes), regions of high GC content and polynucleotide repeats.

Coding region coverage for the Platelet Disorders panel genes

Gene Name

Coverage

A2M, ABCA1, ANKRD26, ANO6, AP3B1, BLOC1S6, CD36, DHCR24, DPAGT1, DTNBP1,F2, F7, F8, F9, F10, F11, F13A1, F13B, FERMT3, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAS, GP1BA, GP6, GP9, HPS1,HPS3, HPS4, HPS5, ITGA2, ITGA2B, ITGB3, KLKB1, LMAN1, LYST, MASTL, MCFD2, MLPH, MPL, MYH9, MYO5A, NBEAL2, P2RX1, P2RY12, PLA2G4A, PLA2G7, PLAU, RAB27A, RASGRP2, SERPINA1, SERPINE1, SERPINF2, STIM1, TBXA2R, TBXAS1,USF1, VIPAS39, VKORC1, VPS33B, VWF*, WAS

95%-100%

GNAQ, HOXA11, RUNX1,

90%-95%

HPS6,

75%-90%

Coding regions below 95% may be covered upon request if further assessment of a gene is necessary (some exceptions may apply). Please contact Knight Diagnostic Laboratories for more information.

*VWF Exon 26 (NM_000552.3), a region with high homology is assessed via long-range PCR & Sanger sequencing

Specimen Requirements:

  • Genomic DNA:  10 µg at 100 ng/µL (EDTA must not be present)
  • Blood:  EDTA or ACD (Solution A or B):
  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Am J Hematol. 2010 Mar, 85(3):175-180
  2. Hematology Am Soc Hematol Educ Program. 2011;2011:377-383
  3. Hematology Am Soc Hematol Educ Program. 2005:396-402

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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