Name of the Procedure:

IKBKAP Gene Analysis (e.g., Familial Dysautonomia) – Analysis of Common Variants (e.g., 2507+6T>C, R696P)

Summary

This genetic test examines specific variants of the IKBKAP gene known to be associated with familial dysautonomia, a rare genetic disorder affecting the autonomic and sensory nervous systems.

Purpose

The procedure aims to:

• Confirm a diagnosis of familial dysautonomia.
• Identify carriers of the IKBKAP gene mutations.
• Provide information for family planning or genetic counseling.

Indications

• Symptoms of familial dysautonomia such as poor muscle tone, feeding difficulties, lack of tears, and frequent infections.
• Family history of familial dysautonomia.
• Couples considering having children, where one or both partners are of Ashkenazi Jewish descent.

Preparation

• No specific preparation required.
• Patients may be advised to provide a detailed family medical history.
• Sometimes a blood draw might be scheduled; patients should follow routine blood draw preparation instructions (e.g., hydrate well).

Procedure Description

1. Sample Collection: A blood sample is typically collected from the patient.
2. DNA Extraction: The sample is sent to a lab where DNA is extracted.
3. Genetic Analysis: The DNA is analyzed for the specific common variants 2507+6T>C and R696P in the IKBKAP gene using techniques like PCR (Polymerase Chain Reaction) and sequencing.
4. Results Interpretation: Results are interpreted by a geneticist who will provide a detailed report outlining whether the mutations are present.

Duration

The blood draw takes a few minutes, but the entire analysis process can take several weeks for results.

Setting

Performed in genetic testing laboratories, with the initial blood draw often conducted in a physician’s office, hospital, or outpatient clinic.

Personnel

• Phlebotomist or nurse for blood draw.
• Geneticists and lab technicians for the DNA analysis.
• Genetic counselor or physician for delivering and explaining the results.

Risks and Complications

• Minimal risks from the blood draw, including slight bleeding or bruising at the puncture site.
• Rarely, emotional distress if results indicate a genetic disorder.

Benefits

• Accurate diagnosis, aiding in better management and treatment of familial dysautonomia.
• Informed family planning decisions.
• Genetic counseling for at-risk family members.

Recovery

• No recovery period needed for blood draw.
• Emotional and psychological support may be needed depending on test results.

Alternatives

• Other genetic tests may examine a broader range of mutations but may not be as focused.
• Clinical diagnosis based on symptoms and family history without genetic confirmation, although less definitive.

Patient Experience

• Blood draw involves brief, minimal discomfort.
• Awaiting test results may cause anxiety; support from healthcare providers is important.
• Genetic counseling is recommended for understanding and coping with the diagnosis if mutations are found.

Pain management is typically not required, as the procedure is minimally invasive.