Kabuki Syndrome


Sunquest Code:NGSMCoPath Code:NGS
Epic Code:LAB5865Epic Name:Next Generation Sequencing
Synonyms:MLL2 Gene Sequencing; KMT2D Gene Sequencing; KDM6A Gene Sequencing
Methodology:Next generation sequencing
CPT Code:----------CPTCODES HERE----------
Turnaround Time:Results are reported within 6 weeks.
Special Instructions:Refer to Gene Specific CPT Codes for Genetic Sequencing in Associated Links for list of genes, panels and CPTs for tests available. Gene(s) or panel should also be indicated in the comment section of EPIC order. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. Bone Marrow Transplant Patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
Associated Links:

NGS Genetic Testing Consent Form, NGS Order Instructions, Gene Specific CPT Codes for Genetic Sequencing



Collection Instructions

Specimen:Blood; bone marrow; skin/tissue; cultured fibroblasts; buccal swab; DNA
Optimal Volume:10 mL
Minimum\Peds Volume:3 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Collection Instructions:Follow the NGS Order Instructions prior to sample collection. See Associated Links.
  • Blood: Collect 10 mL, 3 mL minimum in yellow ACD (Solution A) tube; alternate: Purple (EDTA)
  • Bone Marrow: Collect 3 mL, 1 mL minimum in yellow ACD (Solution A); alternate: Purple (EDTA)
  • Buccal Swabs: Contact MDL for swabs and instructions (612-273-8445)
  • Fibroblasts: Two T25 Flasks with culture media
  • Tissue: 5 mm x 5 mm x 5 mm fresh tissue; embedded tissue (sufficient for 60-100 five micron sections) Collect fresh tissue in sterile container. Deliver to the laboratory within 1 hour. Freeze specimen (liquid nitrogen or dry ice) and transport to the laboratory frozen (-70°C) or place in or RPMI and transport same day at 4°C
  • DNA: 40 uL with minimum 50 ng/uL concentration
Causes for Rejection:Frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. Shared specimen testing using automated hematology analyzer will not be accepted. Tissue sample not frozen, place in RPMI or not delivered within one hour. DNA extracted at non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Whole blood/bone marrow/buccal/fibroblasts/DNA:  Do not process. Store at room temperature.
Tissue: Deliver to laboratory within 1 hour, freeze specimen at -70°C or use RPMI.
Shipping Instructions:Blood/bone marrow/buccal/fibroblasts/DNA: Ship at room temperature. Do not freeze.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:See interpretive report.
Use:
This assay is useful for clinical genetic diagnosis of Mendalian inherited disorders using a next-generation (NGS) platform. This platform allows simultaneous sequencing of a large number of genes using a single assay. Genomic DNA is extracted in the UMMC Molecular Diagnostic Laboratory. The DNA sample undergoes quantitation and next generation library creation. The prepared sample undergoes hybridization, capture and illumina paired-end sequencing at the University of Minnesota Genomic Center. During the bioinformatic analysis phase, samples are demultiplexed, aligned to a target reference, and variants called. The Molecular Diagnostics Lab will interpret the data using genomic databases and generate a clinical report.


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