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Congenital Neutropenia Panel 3 Weeks Showing Some Symptoms at ANC Nadir but Generally Milder Infectious Complications

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Congenital Neutropenia Panel 3 Weeks Showing Some Symptoms at ANC Nadir but Generally Milder Infectious Complications Specimen requirements CPT Codes/Billing/Turnaround time Parental/Patient/Pediatric: 3-5 mL Whole Blood (EDTA tube, Test Code: 4845 lavender top), 2-5 mL Bone Marrow (EDTA tube, lavender top), 3-4 CPT codes: 81250, 81406x4, 81479 Buccal swabs, or ≥1ug of DNA at ≥50ng/uL of High Quality DNA. Congenital Turnaround time: 21 days Fetal: 7-15 mL Amniotic Fluid, 5-10 mg Chorionic Villi; back up culture of Amniocytes or Chorionic Villi is highly recommended. The CPT codes provided are subject to change. CPT codes are Cultured: Two T25 flasks cultured amniocytes or Chorionic Villi provided only as guidance to assist clients with billing. (2x106 minimum). Maternal Blood sample of 3-5 mL Whole Blood Neutropenia For additional information related to shipping, billing or pricing, (EDTA tube, lavender top) is requested for all prenatal samples for please contact, BloodCenter Client Services: (414) 937-6396 or maternal cell contamination studies. 800-245-3117, Option 1, or [email protected]. If questions, please contact the laboratory to discuss sample requirements. Panel References Ancliff, PJ, Blundell, MP et al. 2006. Two novel activating mutations in the Wiskott- Shipping requirements Aldrich syndrome protein result in congenital neutropenia. Blood 108: 2182-2189. Beel K, Cotter MM et al. 2008. A large kindred with X-linked neutropenia with an of the ANC, typically with periods of severe neutropenia every Ship on an ice pack or at room I294T mutation of the Wiskott-Aldrich syndrome gene. Br J Haematol. 144:120– BloodCenter of Wisconsin offers a specifically temperature. Protect from freezing. 126. designed Congenital Neutropenia Panel 3 weeks showing some symptoms at ANC nadir but generally milder infectious complications. Cyclic neutropenia is typically Place the specimen and the requisition Boztug K, Klein C. 2013. Genetics and pathophysiology of severe congenital (test code: 4845) optimized for detection of into plastic bags and seal. Insert into neutropenia syndromes unrelated to neutrophil elastase. Hematolo Oncol Clin N inherited in an autosomal dominant manner caused by a Styrofoam container, seal and place Am. 27:43-60. germline variants in 23 genes known to cause heterozygous pathogenic variants in ELANE. Additional genes in into a sturdy cardboard box, and Dale DC, Link DC. 2009. The many causes of severe congenital neutropenia. N Engl severe congenital neutropenia (SCN), cyclic this panel are associated with congenital syndromes that have tape securely. Ship the package in J Med. Jan 1; 360(1):3-5. neutropenia as a common finding among other non-hematologic Donadieu J, Feneteau O et. al. 2011. Congenital neutropenia: diagnosis, molecular neutropenia, and syndromic neutropenia with features. ORDER SHIP compliance with your overnight carrier guidelines. Label with the following bases and patient management. Orphanet J Rare Dis. 6: 26. non-hematological manifestations. This panel evaluates for single nucleotide variants and small address: Germeshausen M, Deerberg S et al. 2013. The spectrum of ELANE mutation and deletions and duplications, which are most commonly Client Services/Diagnostic Laboratory their implications in severe congenital and cyclic neutropenia. Hum Mutat. June; 34(6): 905-14. Severe congenital neutropenia (SCN) is a heterogeneous responsible for genetic disease. However, large deletions and BloodCenter of Wisconsin group of disorders characterized by reduction in the absolute duplications, also referred to as copy number variants (CNV), are 638 N. 18th St. Horwitz, MS, Corey, SJ et al. 2013. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin North Am. Feb; neutrophil count (ANC) of less than 500/uL (<0.5x10 9/L) and a known cause of genetic disorders, but can escape detection Milwaukee, WI 53233 27(1):19-41. recurrent severe infections, fever, and inflammation of the skin by next-generation sequence analysis. Further testing with Klein C, Grudzien M et al. 2007. HAX1 deficiency causes autosomal recessive severe and mucous membranes. Another hallmark of certain disorders the BloodCenter of Wisconsin custom designed, high density congenital neutropenia (Kostmann Disease). Nat Genet. Jan;39: 86-92. gene-focused array, aCGH Deletion/Duplication Analysis, allows Required forms in this group is predisposition to myelodysplastic syndrome and Klein C, Welte K. 2010. Genetic insights into congenital neutropenia. Clin Rev acute myeloblastic leukemia (AML). Diagnosis is based on clinical for the possible detection of large deletions and duplications Please complete all pages of the Allergy Immunol. Feb;38(1): 68-74. findings and serial measurement of the ANC. within a single exon of a given gene, encompassing one or more requisition form. Clinical history Rehm HL, Bale SJ et al. 2013. Working Group of the American College of Medical exons, or affecting an entire gene. This testing may be warranted The diagnosis of a specific congenital neutropenia disorder may (including patient’s ethnicity, clinical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG clinical when results of sequence analysis do not fully explain a clinical be difficult to establish solely on functional studies or clinical diagnosis, family history and relevant laboratory standards for next-generation sequencing. Genet Med.15:733-747. phenotype, or when a suspected disorder is known to be caused history. Advances in genetic testing through next-generation laboratory findings) is necessary for Richards S, Aziz N A et al.2015. Standards and guidelines for the interpretation of by deletions or duplications. Please refer to the aCGH Deletion/ sequencing allow for the identification of underlying genetic optimal interpretation of genetic test sequence variants: a joint consensus recommendation of the American College Duplication Analysis test description for more information about of Medical Genetics and Genomics and the Association for Molecular Pathology. defects associated with neutropenia that have overlapping results and recommendations. Clinical specific genes included in this array. Genet Med.17:405-424. clinical and laboratory findings. Accurate diagnosis provides and laboratory history can either be ORDER SHIP Xia J, Bolyard AA et al. 2009. Prevalence of mutations in ELANE, GFI1, HAX1, information about phenotype and prognosis, guides medical Refer to the table inside for further information about each recorded on the requisition form or SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J management decisions, assists with the identification of affected gene in the Congenital Neutropenia Panel, including the clinical and laboratory reports can be Haematol.147:535–42. family members, and allows for accurate genetic recurrence risk clinical phenotype, OMIM numbers and inheritance pattern. submitted with the sample. assessment. Variants in several different genes are known to cause syndromic or non-syndromic congenital neutropenia, which may be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner. Most common causes of severe congenital neutropenia include autosomal dominant pathogenic variants in ELANE, (38-80% of SCN cases, varying with ethnicity and other factors) and autosomal recessive pathogenic variants in HAX1 (up to 15-20% of cases of SCN). Genes responsible for rare cases of non-syndromic SCN analyzed by this panel include CSF3R, G6PC3, GFI1, JAGN1, VPS45 and WAS. Cyclic neutropenia is distinguished from congenital neutropenia by regular oscillations © Copyright 2017 BloodCenter of Wisconsin, Inc. , Part of Versiti. All rights reserved. 1 Congenital Neutropenia Panel: gene, clinical phenotype, OMIM number and inheritance pattern. Gene Clinical Phenotype Phenotype/Gene Inheritance OMIM number AP3B1 Hermansky Pudlak syndrome, type 2: oculocutaneous albinism, platelet defects and 608233/603401 Autosomal Recessive congenital neutropenia. CSF3R Severe congenital neutropenia- 7(SCN7): isolated severe congenital neutropenia with 617014/138971 Autosomal Recessive recurrent infections. CXCR4 WHIM syndrome: neutropenia, hypogammaglobulinemia- related recurrent infections, 193670/162643 Autosomal Dominant extensive human papillomavirus (HPV) infection, and myeloid hyperplasia and apoptosis. ELANE Severe congenital neutropenia-1 (SCN1): isolated severe congenital neutropenia with 202700/130130 recurrent infections. Autosomal Dominant Cyclic Neutropenia: regular oscillations of neutropenia and generally milder infectious 162800/130130 complications. G6PC3 Severe congenital neutropenia-4, (SCN4) (includes Dursun syndrome): congenital 612541/611045 Autosomal Recessive neutropenia, recurrent infections, prominent super!cial venous pattern; variable pulmonary hypertension, cardiac defects, thrombocytopenia, urogenital abnormalities. GATA1 X-linked anemia with or without neutropenia and /or platelet abnormalities (XLANP): 300835/305371 variable severity of early-onset anemia with erythroid hypoplasia; variable neutropenia, X-linked Recessive variable thrombocytopenia or platelet dysfunction. Thrombocytopenia, abnormal platelet morphology, variable dyserythropoietic anemia. 300367/305371 GATA2 Primary lymphedema with myelodysplasia (Emberger syndrome). 614038/137295 Immunode!ciency 21 (IMD21, DCML, or MONOMAC): primary immunode!ciency with 614172/137295 monocytopenia, B-cell de!ciency without hypogammaglobulinemia, NK-cell de!ciency, Autosomal Dominant but generally normal T-cell numbers. Susceptibility to myelodysplastic syndrome.
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