Shipping requirements Gresele P. 2014. Diagnosis of inherited platelet function disorders: guidance for the SSC of the ISTH. J Thromb and Haemost. 13:314-322. Ship on an ice pack or at room Hinckley J, Di Paola J. 2014. Genetic basis of congenital platelet disorders. temperature. Protect from freezing. Hematology Am Soc Hematol Educ Program. Dec5;(1): 3337-42. Place the specimen and the requisition Platelet Function Israels SJ, El-Ekiaby M, Quiroga T, Mezzano D. 2010. Inherited disorders of platelet into plastic bags and seal. Insert into function and challenges to diagnosis of mucocutaneous bleeding. Haemophilia. a Styrofoam container, seal and place 16 (Suppl 5):152-9. into a sturdy cardboard box, and Johnson B, Lowe GC et al. 2016. Whole exome sequencing identifies genetic tape securely. Ship the package in variants in inherited thrombocytopenia with secondary qualitative function Disorder Panel defects. Haematologica. 101(10):1170-1179. ORDER SHIP compliance with your overnight carrier guidelines. Label with the following Kunicki TJ, Williams SA, Nugent DJ. 2012. Genetic variants that affect platelet address: function. Current Opin Hematol.19:371-9. Client Services/Diagnostic Laboratory Lentaigne C, Freson K et al. 2016. Inherited platelet disorders: toward DNA-based BloodCenter of Wisconsin diagnosis. Blood. 127(23):2814-2823. 638 N. 18th St. Maclachlan A, Watson SP, Morgan NV. 2017. Inherited platelet disorders: Insight Milwaukee, WI 53233 from platelet genomics using next-generation sequencing. Platelets. Jan ;28(1);14- 19. Mumford AD, Nisar S et al. 2013. Platelet dysfunction associated with the novel platelet syndrome, FLI1-Paris Trousseau thrombocytopenia, and Trp29Cys thromboxane A₂ receptor variant. J Thromb Haemost. Mar;11(3):547-54. BloodCenter of Wisconsin offers a specifically Required forms a number of platelet-type bleeding disorders. Additional genes Nurden AT, Nurden P. 2011. Advances in our understanding of the molecular basis designed Platelet Function Disorder Panel Please complete all pages of the of disorders of platelet function. J Thromb Haemost. 9 Suppl 1:76-91. in this panel are associated with syndromes that have defective (test code 4835) optimized for detection of platelet function as a common finding among other non- requisition form. Clinical history Nurden AT, Nurden P. 2015. Inherited disorders of platelet function: selected (including patient’s ethnicity, clinical updates. J Thromb Haemost. Volume 13(Suppl1): S2- S9. germline variants in 31 genes known to cause hematologic features. diagnosis, family history and relevant Paterson AD, Rommens JM, et al. 2010. Persons with Quebec platelet disorder inherited platelet function disorders. This panel evaluates for single nucleotide variants and small laboratory findings) is necessary for have a tandem duplication of PLAU, the urokinase plasminogen activator gene. deletions and duplications, which are most commonly optimal interpretation of genetic test Blood.115:1264-6. responsible for genetic disease. However, large deletions and ORDER results and recommendations. ClinicalSHIP Rao AK. 2013. Inherited platelet function disorders: overview and disorders of Inherited platelet function disorders are a heterogeneous group duplications, also referred to as copy number variants (CNV), are and laboratory history can either be granules, secretion, and signal transduction. Hematol Oncol Clin North Am. Jun; of bleeding disorders of variable severity caused by defects in also known cause of genetic disorders, but can escape detection 27(3):585-611. recorded on the requisition form or platelet adhesion, glycoprotein expression, receptor function, by next-generation sequence analysis. Further testing with clinical and laboratory reports can be Rehm HL, Bale SJ et al. 2013. Working Group of the American College of Medical signaling pathways, aggregation, cytoskeleton proteins, secretion, the BloodCenter of Wisconsin custom designed, high-density Genetics and Genomics Laboratory Quality Assurance Committee. ACMG clinical granular contents and abnormalities in procoagulant activity. submitted with the sample. laboratory standards for next-generation sequencing. Genet Med.15:733-747. gene-focused array, aCGH Deletion/Duplication Analysis, allows These disorders are typically associated with normal platelet for the possible detection of large deletions and duplications Richards S, Aziz N A et al.2015. Standards and guidelines for the interpretation of counts and characterized by bleeding symptoms which may sequence variants: a joint consensus recommendation of the American College within a single exon of a given gene, encompassing one or CPT Codes/Billing/Turnaround time of Medical Genetics and Genomics and the Association for Molecular Pathology. include epistaxis, extensive bruising, menorrhagia in women, more exons, or affecting an entire gene. This testing may be and the possibility of life-threatening excessive bleeding when Test Code: 4835 Genet Med.17:405-424. warranted when results of sequence analysis do not fully explain Saultier P,Vidal, L.et al. 2017. Macrothrombocytopenia and dense granule challenged by surgery, injury, or childbirth. a clinical phenotype, or when a suspected disorder is known to CPT codes: 81404, 81479 deficiency associated with FLI1 variants: ultrastructural and pathogenic features. The diagnosis of a specific platelet function disorder may be be caused by deletions or duplications. Specifically, the Quebec Haematologica.102:1006-1016. Turnaround time: 21 days difficult to establish based solely on functional studies, especially Platelet Disorder is associated with a heterozygous 78-kb tandem Stevenson WS, Rabbolini DJ et al. 2015. Paris-Trousseau thrombocytopenia is The CPT codes provided are subject to change as more in patients with milder disorders, as these assays are often duplication of the PLAU gene, which will be detected by aCGH phenocopied by the autosomal recessive inheritance of a DNA-binding domain and not by the Platelet Function Disorder Panel. Please refer to information becomes available. CPT codes are provided only as mutation in FLI1. Blood. Oct 22;126(17); 2027-30. technically challenging, difficult to interpret, and typically require guidance to assist clients with billing. immediate testing on fresh patient platelets due to limited sample the aCGH Deletion/Duplication Analysis test description for more Songdej N, Rao AK. 2017. Inherited platelet dysfunction and hematopoietic information about specific genes included in this array. transcription factor mutations. Platelets Jan; 28(1):20-26. stability. Advances in genetic testing through next-generation For additional information related to shipping, billing or pricing, sequencing allow for identification of underlying genetic please contact, BloodCenter Client Services: (414) 937-6396 or Watson SP, Lowe M et al. 2013. Genotyping and phenotyping of platelet function For broader evaluation of unspecified platelet problems, disorders. J Thromb Haemost. 11(suppl.1):351-363. defects for platelet function disorders that have overlapping both the Platelet Function Disorder Panel and the Inherited 800-245-3117, Option 1, or [email protected]. clinical and laboratory findings. Accurate diagnosis provides Westbury SK, Mumford AD. 2016. Genomics of platelet disorders. Hemophilia. Thrombocytopenia Panel can be ordered together as the 22(Suppl.5): 20-24. information about the phenotype and prognosis, guides medical Comprehensive Platelet Disorder Panel. For broader evaluation management decisions, assists with the identification of affected References Zhou Y, Zhang J. 2014. Arthrogryposis–renal dysfunction–cholestasis (ARC) of unspecified bleeding disorders, the Platelet Function Disorder syndrome: from molecular genetics to clinical features. Italian J Pediatrics. 40:77. family members, and allows for accurate genetic recurrence risk Panel and Coagulation Disorder Panel can be ordered together as Cox K, Price V, Kahr WHA. 2011. Inherited platelet disorders: a clinical approach to assessment. the Comprehensive Bleeding Disorder Panel. diagnosis and management. Expert Rev Hematol. Aug;4(4):455-72. Variants in several different genes known to cause syndromic or Faioni EM, Razzari C et al. 2014. Bleeding diathesis and gastro-duodenal ulcers Refer to the table inside for further information about each in inherited cytosolic phospholipase-A2 alpha deficiency. Thromb Haemost. non-syndromic platelet function disorders may be inherited in gene in the Platelet Function Disorder Panel, including the Dec;112(6):1182-9. an autosomal recessive or autosomal dominant manner. More clinical phenotype, OMIM numbers and inheritance pattern. Freson K, Wijgaerts A, Van Geet C. 2014. Update on the causes of platelet disorders common and many rare types of inherited platelet function and functional consequences. John Wiley & Sons Ltd, Int. Jnl. Lab. Hem. 36, disorders will be identified with this panel, including Glanzmann 313–325. thrombasthenia, Bernard-Soulier syndrome, familial platelet disorder with associated myeloid malignancy (FPDMM), Scott syndrome, leukocyte integrity adhesion deficiency type III, gray © Copyright 2017 r0818 BloodCenter of Wisconsin, Inc. , Part of Versiti. All rights reserved. Platelet Function Disorder Panel: gene, clinical phenotype, OMIM number and inheritance pattern. Platelet Function Disorder Panel: gene, clinical phenotype, OMIM number and inheritance pattern. Gene Clinical Phenotype Phenotype/Gene Inheritance Gene Clinical Phenotype Phenotype/Gene Inheritance