• How long does it take to receive the results?

Due to the complexity of molecular analysis, results typically take between two to four weeks.

• What does a positive result mean?

It indicates a genetic mutation associated with dystonia, which requires correlation with clinical symptoms by a specialist.

Book Primary Dystonia Genetic Test | Lahalak Medical Platform

Lahalak Medical PlatformDifferentiate Care

Medical notice: this information is for education and service understanding. It is not a diagnosis or a recommendation for an unnecessary procedure.

About this service

A molecular laboratory analysis evaluating genetic variants associated with movement disorders, specifically primary dystonia, providing a comprehensive view of the patient's genetic status.

Importance of Genetic Testing

Helps identify the exact cause of the movement disorder.
Assists in differentiating between various types of dystonia.
Provides valuable inheritance information for family members.

Targeted Genes

TOR1A Gene: Associated with Dystonia Type 1 (DYT1).
THAP1 Gene: Associated with Dystonia Type 6 (DYT6).

Indications for the Test

Early-onset involuntary muscle contractions.
Family history of primary dystonia disorders.
Inadequate response to conventional movement disorder treatments.

What is included?

✓Venous blood sample collection
✓TOR1A/THAP1 gene sequencing
✓Detailed medical result report

Conditions and notices

Fasting is not required
Family medical history is preferred
Requires coordination with a genetic counselor for interpretation

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the purpose of this genetic analysis?

It aims to identify mutations in the TOR1A and THAP1 genes that may cause hereditary movement disorders.

• Do I need to fast before the blood draw?

No, this genetic test does not require fasting; the sample can be collected at any time.

• How is this test performed?

It is performed via a simple venous blood draw from the arm, which is then sent to a molecular genetics lab.

• Is home sample collection available for this test?

Yes, you can book a home collection service through the platform, and a specialist will visit you.

Service resources and references

References and additional resources

Reference material and files associated with this service when available.

Scientific references

Saudi Society of Medical Genetics
International Parkinson and Movement Disorder Society

Primary Dystonia Genetic Analysis

About this service

Importance of Genetic Testing

Targeted Genes

Indications for the Test

What is included?

Conditions and notices

Frequently Asked Questions

References and additional resources

Scientific references

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