Check Your Genetic Health

SLC19A2 Full Gene Sequencing

Identify the genetic causes of Thiamine-responsive megaloblastic anemia syndrome with comprehensive sequencing, enabling precise diagnosis and effective management for you and your family.

Trusted medical contentUpdated: 10-11-2026Views: 0LHL-6298

Frequently Asked Questions

Short answers to the FAQs published with this service.

• Does the SLC19A2 gene test require fasting?

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

• What exactly does this test identify?

It identifies genetic mutations in the SLC19A2 gene, which is responsible for thiamine transport, causing TRMA syndrome.

• How is the sample collected for this analysis?

The sample is collected by drawing a small amount of venous blood into a tube designated for genetic testing.

• Is home collection available for this test?

Yes, home sample collection service is available for this test through the Lahalak Medical Platform.

• How long does it take for the analysis results to appear?

Due to the complexity of gene sequencing, results usually take between 14 to 21 working days.

• Who is qualified to explain the test results?

Results should be presented to a medical geneticist or a hematologist for accurate interpretation.

Medical Laboratories

Check Your Genetic Health

SLC19A2 Full Gene Sequencing

Identify the genetic causes of Thiamine-responsive megaloblastic anemia syndrome with comprehensive sequencing, enabling precise diagnosis and effective management for you and your family.

Trusted medical contentUpdated: 10-11-2026Views: 0LHL-6298

View service availability

Check Your Genetic Health | SLC19A2 Full Gene Sequencing

Home Service Available

Service typeLaboratory genetic test

Duration14-21 working days

Fasting / preparationFasting is not required

Home serviceAvailable

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

An advanced laboratory test sequencing the SLC19A2 gene to diagnose Thiamine-responsive megaloblastic anemia syndrome, sensorineural hearing loss, and diabetes associated with this mutation.

Purpose of the Procedure

Identify mutations in the SLC19A2 gene associated with TRMA syndrome.
Confirm clinical diagnosis in patients with anemia, diabetes, and hearing loss.
Assess genetic risks for family members.

Indications for Testing

Unexplained megaloblastic anemia symptoms.
Early onset sensorineural hearing loss.
Childhood-onset diabetes mellitus.
Family history of TRMA syndrome.

Importance of Results

Guide physicians to use high-dose thiamine as a primary treatment.
Improve quality of life through early symptom management.
Provide accurate genetic counseling for the family.

What is included?

✓Blood sample collection
✓Genetic sequencing analysis
✓Laboratory result report

Conditions and notices

Fasting is not required
Previous medical reports preferred
Pre-test genetic counseling recommended

Frequently Asked Questions

Short answers to the FAQs published with this service.

• Does the SLC19A2 gene test require fasting?

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

• What exactly does this test identify?

It identifies genetic mutations in the SLC19A2 gene, which is responsible for thiamine transport, causing TRMA syndrome.

• How is the sample collected for this analysis?

The sample is collected by drawing a small amount of venous blood into a tube designated for genetic testing.

• Is home collection available for this test?

Yes, home sample collection service is available for this test through the Lahalak Medical Platform.

• How long does it take for the analysis results to appear?

Due to the complexity of gene sequencing, results usually take between 14 to 21 working days.

• Who is qualified to explain the test results?

Results should be presented to a medical geneticist or a hematologist for accurate interpretation.

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
National Library of Medicine (NLM)

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Important Notice:

Content on LahaLak is provided for educational purposes only. It is not a medical diagnosis, prescription, or substitute for consulting a qualified clinician. Medical decisions should not be made from this content alone.

Content reviewed according to the LahaLak Quality Charter.Editorial Policy & Medical Standards

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