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Germline Familial Variant Testing (DH MyExome)

eDH Procedure Code(s)

LAB1755 Germline Familial Variant Testing (DH MyExome)
LAB1846 Germline Familial Variant Testing (DH MyExome) —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 isbeing offered for targeted variant testing for parents or siblings for pathogenic, likely pathogenic variants, and variants of uncertain significance.
Please note that familial variant testing will generally not be recommended with respect to following scenarios
Variant is in a preliminary evidence gene, gene-disease relationship is weak, limited evidence
A variant is detected in a single gene(e.g. VOUS) with an AR phenotype and no second hit can be detected or resolved for phase
The minor allele frequency of the variant is high with respect to the incidence of the disease/phenotype
For additional information, please contact the CGAT lab 603-650-8257 or email CGAT_NGS_Group@hitchcock.org

Order Questions

LAB1755 Germline Familial Variant Testing (DH MyExome)
  • 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
.
LAB1846 Germline Familial Variant Testing (DH MyExome)
  • 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)
Swab Varies BucSwb-R
Blood Varies Lav4-R 1.0
Blood Varies Lav6-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)