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ADP Receptor Deficiency via the P2RY12 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4205 P2RY12 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4205P2RY1281479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Adenosine diphosphate (ADP) receptor deficiency is a rare bleeding disorder only described in about 20 patients to date. Symptoms include epistaxis, easy bruising, mucosal bleeding, menorrhagia, and bleeding complications following trauma or surgery. Patients can be treated with platelet transfusions to mitigate bleeding episodes. Similar clinical features can be observed with patients on Clopidogrel, an inhibitor of the P2RY12 receptor, used as a blood thinner to prevent stroke and other cardiac problems (Cattaneo 2011; Hollopeter et al. 2001). Genetic testing can be helpful in differential diagnosis of ADP receptor deficiency from other platelet function disorders including Bernard-Soulier Syndrome, Glanzmann’s Thrombasthenia, and Hermansky-Pudlak syndrome (Watson et al. 2013).

Genetics

ADP receptor deficiency is inherited in an autosomal recessive manner through pathogenic variants in the P2RY12 gene. Heterozygous patients have been reported to have a milder bleeding phenotype. Missense variants affecting protein stability and/or ADP binding have been reported throughout the coding region and represent about 2/3 of the causative variants (Daly et al. 2009; Cattaneo et al. 2003; Remijn et al. 2007; Lecci et al. 2015). Frameshift variants are found in about 1/3 of ADP receptor deficiency patients (Cattaneo 2011). The P2RY12 gene encodes a platelet ADP receptor which plays critical roles in regulating hemostasis and thrombosis. At sites of vessel injury, ADP is released and binds to the ADP receptors to activate platelet aggregation (Jin and Kunapuli 1998).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity cannot be estimated because only a small number of cases have been reported. Analytical sensitivity should be high because all pathogenic variants in the P2RY12 gene reported to date are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the P2RY12 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with normal platelet levels, but an inability to induce platelet aggregation in the presence of high adenosine diphosphate levels are ideal candidates. Prothrombin time, activated partial prothrombin time, von Willibrand factor antigen and ristocetin cofactor activity are normal (Cattaneo 2011). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in P2RY12.

Gene

Official Gene Symbol OMIM ID
P2RY12 600515
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bleeding Disorder, Platelet-Type, 8 AR 609821

Citations

  • Cattaneo M. 2011. Blood. 117: 2102-12. PubMed ID: 20966167
  • Cattaneo M. et al. 2003. Proceedings of the National Academy of Sciences of the United States of America. 100: 1978-83. PubMed ID: 12578987
  • Daly ME. et al. 2009. Blood. 113: 4110-3. PubMed ID: 19237732
  • Hollopeter G. et al. 2001. Nature. 409: 202-7. PubMed ID: 11196645
  • Jin J., Kunapuli SP. 1998. Proceedings of the National Academy of Sciences of the United States of America. 95: 8070-4. PubMed ID: 9653141
  • Lecchi A. et al. 2015. Blood. 125: 1006-13. PubMed ID: 25428217
  • Remijn JA. et al. 2007. Clinical chemistry and laboratory medicine : CCLM / FESCC. 45: 187-9. PubMed ID: 17311506
  • Watson S.P. et al. 2013. Journal of thrombosis and haemostasis : JTH. 11 Suppl 1: 351-63. PubMed ID: 23516995

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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