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Germline Diagnostic Known Familial Variant Testing

eDH Procedure Code(s)

LAB2819 Germline Diagnostic Known Familial Variant Testing
LAB2820 Germline Diagnostic Known Familial Variant Testing —LAB ONLY

Test Information

Ordering Germline NGS panels and Exome sequencing is only available by referral or prior consult with Genetics providers at DH-H. To request a buccal kit, contact LABCRC@hitchcock.org

Currently this is being offered for familial variant testing for known diagnostic variant(s) only in the family, and is a billable test. For additional information, please contact the CGAT lab 603-650-8257 or email CGAT_NGS_Group@hitchcock.org

Order Questions

Procedure Question
LAB2820 Germline Diagnostic Known Familial Variant Testing
  • Provide proband MRN to link family member to proband
  • Relationship to proband
  • Is this family member affected?
  • Provide detailed clinical phenotype on proband and/or date of clinical notes where this information can be accessed in patient's EMR
  • Indicate variant to focus on
LAB2819 Germline Diagnostic Known Familial Variant Testing
  • Specimen Type:
  • Provide proband MRN to link family member to proband
  • Relationship to proband
  • Is this family member affected?
  • Provide detailed clinical phenotype on proband and/or date of clinical notes where this information can be accessed in patient's EMR
  • Indicate variant to focus on
  • I understand that it is my responsibility (as the ordering provider) to obtain a signed consent form when ordering germline genetic testing and that the DHMC genetic consent form can be found here: Genetic Consent Form

Specimen Information

Specimen Type Specimen Source Acceptable Containers Minimum Test Volume (mL)
Varies Varies Lav6-R 1.0
Varies Varies BucSwb-R
Varies Varies Lav4-R 1.0

Shipping and Handling

Processing Instructions: N/A

Transport Temperature: Refrigerated 4°C
Transport Instructions: N/A

Specimen Stability Unprocessed
Blood: Refrigerated @ 4°C for 7 days
Buccal swab: Ambient or refrigerated @ 4°C for 6 months


Specimen Stability Post Processing
Ambient: N/A
Refrigerate: N/A
Frozen: N/A

Test Components

Component LOINC Code
NGS REPORT STATUS 62364-5

Turnaround Time (TAT)

10 Weeks

Performing Lab Section

Molecular Pathology

Performing Lab(s)

Dartmouth Hitchcock Medical Center Laboratory (MHMH)