Familial Dysautonomia Mutation Analysis (Sendout)

General Information

Lab Name

Lab Code

391

External Test Id

CGPH

Description

Useful For: Identifying mutations in the IKBKAP Gene associated with familial dysautonomia.

Ordering Requirements: A completed Mayo Molecular Genetics: Hereditary Custom Gene Panel Patient Information Form must accompany all orders.

Forms & Requisitions

Mayo Molecular Genetics Hereditary Custom Gene Panel Patient Information Form

Synonyms

Ashkenazi carrier test, Hereditary Sensory and Autonomic Neuropathy Type III, HSAN-III, IKBKAP gene, Riley-Day Syndrome

Interpretation

Method: Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR), Sanger Sequencing or Multiplex Ligation-Dependent Probe Amplification (MLPA)
Interferences and Limitations: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Ordering & Collection

Specimen Type

Whole Blood

Collection

5 mL blood in LAVENDER TOP (EDTA) or YELLOW TOP (ACD) tube

To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

Forms & Requisitions

Mayo Molecular Genetics Hereditary Custom Gene Panel Patient Information Form

Handling Instructions

Outside Laboratories:

Store and transport whole blood at ambient temperature.
All orders must be accompanied by a completed Mayo Molecular Genetics Hereditary Custom Gene Panel Patient Information form.
Expedite transport. Specimen must be received at Mayo Clinic Labs within 96 hours of collection (allow for transport time from UW-MT lab to Mayo).

Stability: Ambient (preferred): 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Quantity

requested: 5 mL whole blood
minimum: 3 mL whole blood

Processing

Processing

Store and transport whole blood at ambient temperature. Refrigerated samples are also acceptable.

Login: GSEND1-;ROOM TEMP

GSNDT1: MAYO
GSTYP1: WB
GTSRQ1: ;Familial Dysautonomia via IKBAP Gene Testing (Mayo Test CGPH)

Sendouts:

Order Mayo Test: CGPH.
- Select Disease State: Neuromuscular Disorders.
- Select "Create your own single gene or custom multi-gene panel."
- Specify Gene: IKBKAP.
- Select "Finalize gene list" to close the order.
Include the Mayo Hereditary Custom Gene Panel Patient Information Form with the sample.
Whole blood specimens must be received by Mayo within 96 hours of collection.

Stability: Ambient (preferred): 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Performance

LIS Dept Code

Performing Location(s)

Sendout	Mayo Clinic Laboratories 800-533-1710 200 First Street Southwest Rochester, MN 55901