Hematology Genetics

Hematology Genetics

• Approach

  Disease-Focused for High Quality Analysis

  With Versiti, you can feel confident knowing that each panel is specifically designed for hematology diagnosis, with careful gene-by-gene selection for clinical validity and utility, with comprehensive coverage of relevant regions. By comparison, panels built upon an exome or genome platform to analyze data across the entire set of human genes, scale back data analysis to cover only designated genes. In this approach, breadth is offered at the expense of depth, resulting in gaps in coverage of potentially relevant genes. 
  
  Our NGS panels are not simply scaled-back analyses, but are custom-built and designed to include every clinically relevant part of each gene expertly selected for inclusion. Supplemental Sanger sequencing to optimize reliable and accurate detection of variants is included in our panel design. This approach to panel design maximizes diagnostic utility and minimizes the risk of off-target results or incidental findings more likely to be identified by a broader testing platform designed for a less specific purpose.

• Our Multidisciplinary Team

  Our unique approach features a multidisciplinary expert hematology team, including pathologists, scientists, practicing clinicians, genetic counselors, and laboratorians dedicated to the interpretation of genetic test results to support a specific, dedicated hematology diagnosis for each patient. Our team of experts is available for clinical consulting and interpretation of your test results as needed.

• Commitment to Utilization Guidance

  An integral component of BloodCenter of Wisconsin hematology genetics services is an active laboratory stewardship and utilization guidance program to improve the value of laboratory services for providers. Our genetic counselors review clinical history provided with all hematology genetics requisitions received, contact the provider with clarifying questions as necessary, and work with clinicians to optimize orders as appropriate.

  Our primary goals through our services are to:

  • Reduce unnecessary testing and help ensure the most appropriate genetic test is ordered; and
  • Avoid excess financial liability for providers and their patients.
     

  Membership in PLUGS

  We are proud to be a member and sponsor of Pediatric Laboratory Utilization Guidance Services (PLUGS®), in its national mission to increase the value of testing to patients through advocacy of laboratory test stewardship. 

  "The proper ordering and interpretation of advanced next generation sequencing panels requires a client-focused utilization management (UM) effort. [Versiti] is a leader in combining the most advanced specialty testing with superb UM support." 
  
  Mike Astion, M.D., Ph.D. 
  Medical Director, Department of Laboratories 
  Senior Vice President, PLUGS 
  Seattle Children’s Hospital

• Tests

  Specifically Designed Panels

  • Clarification and/or confirmation of diagnosis in a patient with clinical and laboratory findings of a hematologic disorder when patient's history suggests multiple disorders
  • Identification of carriers with family history of unspecified bleeding disorders to provide accurate reproductive risk assessment and genetic counseling 
     

  View Sample Report

  Single-Gene Sequencing or Custom Gene Panel

  Analysis of genes included in any specifically designed panel may also be ordered as a stand-alone, single-gene sequencing test or custom panel (2-10 genes), as dictated by the patient’s clinical and laboratory phenotype.

  Single-Gene Analysis-CPT Codes

  Targeted Familial Variant Analysis

  Targeted variant analysis for clinical diagnosis, carrier identification or prenatal diagnosis can also be performed on any gene in the panel when the pathogenic variant(s) is known in the family (test code: 4970).

• Forms

  Hematology Genetics Requisition

  Please complete all pages of the requisition form. Clinical history (including patient’s ethnicity, clinical diagnosis, family history and relevant laboratory findings) is necessary for optimal interpretation of genetic test results and recommendations. Clinical and laboratory history can either be recorded on the requisition form or clinical and laboratory reports can be submitted with the sample. 

  Pre-Authorization Forms

  Diagnostic genetic testing is performed in persons with symptoms and/or clinical signs of a genetic condition, and in persons at high risk for having a genetic condition, particularly if pre-symptomatic intervention can improve outcomes. Genetic testing may also be used to confirm a clinical diagnosis, offer prognostic information that impacts management or rule out a diagnosis in a differential. Often, diagnostic genetic testing of an affected individual will offer results that are relevant to the testing of other family members. 

  Genetic testing may require pre-authorization to best assist in your pre-authorization process; the templates below are designed to be customized to your patient’s clinical scenario.
   

  • aHUS/DDD Genetic Evaluation Pre-Authorization Letter
  • Platelet Function Disorder Panel Pre-Authorization Letter
  • Inherited Thrombocytopenia Panel Pre-Authorization Letter
  • Congenital Neutropenia Panel Pre-Authorization Letter
  • Comprehensive Platelet Disorder Panel Pre-Authorization Letter
  • Comprehensive Bleeding Disorder Panel Pre-Authorization Letter
  • Informed Consent
• Resources

  Single Gene Sequence Analysis – CPT Codes

  Download PDF

  Variant Classification

  Confidence begins with clarity.
  Versiti has variant classification policies that are founded in established practice and are guided with unparalleled experience in hematology.

  Our genetic tests are specifically designed and optimized for the detection of germline variants known to cause or contribute to numerous common and rare hematological disorders. 

  We adhere to the 5-tier classification system outlined in the American College of Medical Genetics (ACMG) Standards and Guidelines, which are nationally recognized recommendations for clinical variant interpretation among genetic testing laboratories: 

  1. Pathogenic: Conclusive evidence demonstrates that the variant directly causes or contributes to disease
  2. Likely Pathogenic: Strong evidence supports that the variant causes or contributes to disease
  3. Uncertain Significance: Current evidence on the identified variant is insufficient or inconclusive
  4. Likely Benign: Strong evidence supports that the variant does not cause or contribute to disease
  5. Benign: Conclusive evidence that the variant does not cause or contribute to disease

   

  Specimen Requirements

  Parental/Patient/Pediatric: 3-5 mL whole blood (EDTA tube, lavender top), 2-5 mL bone marrow (EDTA tube, lavender top), 3-4 Buccal swabs or ≥1ug of DNA at ≥50ng/uL of high-quality DNA. 

  Fetal: Direct: 7-15 mL amniotic fluid, 5-10 mg chorionic villi; backup culture of amniocytes or chorionic villi is highly recommended. Cultured: two T25 flasks cultured amniocytes or chorionic villi (2x10^6 minimum). Maternal blood sample of 3-5 mL whole blood (EDTA tube, lavender top) is requested for all prenatal samples for maternal cell contamination studies. 

  Shipping Requirements

  Ship on an ice pack or at room temperature. Protect from freezing. Place the specimen and the requisition into plastic bags and seal. Insert into a Styrofoam container, seal and place into a sturdy cardboard box, and tape securely. Ship the package in compliance with your overnight carrier guidelines.

  Label with the following address:
  Client Services/Diagnostic Laboratory
  BloodCenter of Wisconsin
  638 N. 18th St.
  Milwaukee, WI 53233