Known Mutation Testing

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General Information

Lab Name
Known Mutation Testing
Lab Code
KMU
ORCA Name
Known Mutation Testing
Description

This test detects the presence or absence of a specific mutation that is known to be present in members of a patient's family who has been previously tested using the BROCA, ColoSeq™, EpiPlex™, MarrowSeq™, Megalencephaly or Immunoplex™ panels. The specific mutation should be written on the requisition. See BROCA Cancer Risk Panel [BROCA], ColoSeq - Lynch and Polyposis Panel [COSEQ], Epileptic Encephalopathy Panel [EPIPX], MarrowSeq™ Hereditary Bone Marrow Failure Panel [MRW], Immunoplex Panel [IMD] and Megalencephaly Panel [MEGPX] for the full list of genes.

References
  • Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
  • Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
  • Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition form.
  2. Under “Check Test Requested,” check: "Known Mutation".
  3. Enter the gene and specific mutation to be identified in the line provided.
  4. Provide a copy of the family member's test results. If the family member's report is not available, please provide their name and date of birth, in addition to their specific mutation.

Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).

Synonyms
APC, Adenomatous polyposis, CDH1, Colon cancer, EPCAM, FAP, HNPCC, Hereditary nonpolyposis colorectal cancer, Lynch Syndrome, MLH1, MSH2, MSH6, MSI, MUTYH, Next-generation sequencing, PMS2, PTEN, STK11, TP53, familial mutation, known mutation, single mutation
Components

Interpretation

Method

Targeted DNA Sequencing or Next Generation Sequencing

For DNA sequencing the region of the specific mutation in the family is amplified by PCR and sequenced bidirectionally by Sanger sequencing. Large deletions and duplications and some smaller variants are tested using Next Generation Sequencing. See methods descriptions for BROCA, ColoSeq™, EpiPlex™, MarrowSeq™, Megalencephaly or Immunoplex™ panels.

Reference Range
See individual components
Ref. Range Notes

No mutations detected

References
  • Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
  • Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
  • Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069

Ordering & Collection

Specimen Type
Peripheral Blood, cultured cells from skin biopsy, purified DNA from peripheral blood or cultured cells
Collection

BLOOD:

  • 10 mL whole blood in LAVENDER TOP EDTA tube.
  • Also acceptable: YELLOW TOP ACD tube, purified DNA from peripheral blood or cultured cells.

SKIN BIOPSY:

  • Collection and transport: Obtain 2-4 mm punch biopsy of skin sample under sterile conditions and place in transport media (e.g. Alpha-MEM media, RPMI). Transport media can be supplied by the lab; call 206-598-4488 to request. If transport media is not available, the following media are acceptable alternatives if shipping time will not exceed 24 hours: lactated Ringer's solution, viral transport medium, or sterile saline. DO NOT USE formaldehyde, formalin, alcohol, or 5% dextrose, or tissue culture medium buffered with bicarbonate.

CULTURED CELLS:

  • (2) T23 or (1) T75 flask (minimum 1-T25 flask)*.

*Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide [[MCC]] for ordering and specimen requirements)

Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition form.
  2. Under “Check Test Requested,” check: "Known Mutation".
  3. Enter the gene and specific mutation to be identified in the line provided.
  4. Provide a copy of the family member's test results. If the family member's report is not available, please provide their name and date of birth, in addition to their specific mutation.

Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).

Handling Instructions

Ship specimen at room temperature for overnight delivery.

Blood specimens can be held for up to 7 days before shipping if refrigerated.

Ship specimens to:

UW MEDICAL CENTER

LABORATORY MEDICINE - GENETICS LAB

1959 NE PACIFIC ST, ROOM NW220

SEATTLE, WA 98195-7110

Quantity
requested: entire sample
minimum: 5 mL whole blood

Processing

Processing

Blood: Refrigerate whole blood

Unacceptable Conditions: Frozen or clotted specimens

Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable

Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.

Performance

LIS Dept Code
Genetics (GEN)
Performing Location(s)
UWMC Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM – 4:00 PM)
Fax: 206-598–0304
Lab email: genelab@uw.edu

Supervisor

Robert Livingston, PhD bobl@uw.edu

Genetic Counselors

Angela Jacobson, MS, LGC agibson@uw.edu
Ginger Tsai, MS, LGC, gjtsai@uw.edu

Faculty

Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Karen Stephens, PhD, FACMG
Jonathan F. Tait, MD, PhD
Vera Paulson, MD, PhD

Frequency
Results within 4 weeks, once sample arrives in the laboratory
Available STAT?
No

Billing & Coding

CPT codes
Billing Comments

For additional test/billing information, see following page: Known Mutation CPT codes.

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

Billing and Insurance Pre-Authorization

We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).

Email: ngsbill@uw.edu or call 1-855-320-4869 for more information.

Genetics Preauthorization Form

LOINC
35474-6