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Laboratory Test Directory

Familial Mutation Analysis

Components

Name Method Department Units
Familial Mutation Analysis DNA extraction
Polymerase chain reaction (PCR)
Sanger sequencing
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Keep at room temperature or refrigerate

Amniotic fluid

Container Type Container Size Specimen Volume
Preferred

Sterile container

N/A 20 mL-30 mL
Stability

Room temperature - 24 hour(s)

Specimen Preparation

  • Transport to laboratory as soon as possible
  • Keep at room temperature
  • Do not freeze
  • Do not add fixative
  • Do not centrifuge

Tissue (Fresh)

Container Type Container Size Specimen Volume
Preferred

Tissue culture transport media

N/A 5mm x 5mm or larger
Alternate

Ringer's lactate solution in sterile container

N/A 5mm x 5mm or larger
Alternate

Sterile container with saline

N/A 5mm x 5mm or larger
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Transport to laboratory as soon as possible
  • Keep at room temperature or refrigerate
  • Do not add fixative
  • Wrap specimen container tightly with parafilm

Cord blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 2 mL-4 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not freeze
  • Do not centrifuge
  • Keep at room temperature or refrigerate

Tissue (Snap-frozen)

Container Type Container Size Specimen Volume
Preferred

Tissue cassette

N/A 5mm x 5mm or larger
Alternate

Cryogenic tube

N/A 5mm x 5mm or larger
Stability

Frozen - 12 month(s)

Specimen Preparation

  • Freeze immediately after collection.
  • Keep frozen
  • Protect from heat
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Wrong collection tube
  • Clotted specimen

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended.

This is a targeted mutation (variant) analysis available to family members of a proband with known mutation(s) previously identified by clinical or research sequence analysis. This test can also be used as a clinical confirmation testing for a proband who previously had mutation(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing.

If a proband was tested at Nationwide Children's Laboratory, please provide the proband name, date of birth, and accession number (if available) on the Test Requisition Form or Test Order. If a proband was tested by outside clinical/research laboratory, please submit a copy of the proband's original test report containing the mutation (variant) and gene transcript information.

Please call (614) 722-2866 with any questions.

CPT Code

  • 81403