• What does a positive result mean?

It indicates a mutation in the SLC26A3 gene, confirming the genetic diagnosis and requiring clinical follow-up.

• Is testing necessary for family members?

Yes, screening relatives helps identify carriers of the mutation and provides appropriate genetic counseling.

Book SLC26A3 Gene Sequencing in Saudi Arabia

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Book SLC26A3 Gene Sequencing in Saudi Arabia | Lahalak Medical Platform

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

This test involves full DNA sequencing of the SLC26A3 gene to diagnose Congenital Chloride Diarrhea. It is essential for confirming clinical diagnosis and screening family members for genetic risk.

Why is this test performed?

To confirm the clinical diagnosis of Congenital Chloride Diarrhea.
To identify specific disease-causing mutations within the family.
To assess the risk of transmission to future generations.

Target Groups

Infants suffering from chronic watery diarrhea since birth.
Relatives of patients diagnosed with Congenital Chloride Diarrhea.
Couples with a family history of the disease planning for pregnancy.

Importance of Gene Sequencing

Provides high accuracy in detecting point mutations.
Assists in developing a personalized management plan.
Serves as the foundation for pre-implantation genetic testing.

What is included?

✓Venous blood sample collection
✓DNA sequencing of the SLC26A3 gene
✓Comprehensive detailed genetic report

Conditions and notices

Fasting is not required
Family medical history is preferred
Consult a geneticist to interpret results

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is Congenital Chloride Diarrhea?

It is a rare genetic disorder causing the loss of large amounts of chloride and fluids through the intestines from birth.

• Is fasting required for this test?

No, fasting is not required for the SLC26A3 gene sequencing test.

• How long does it take to get the genetic results?

Results usually take 3 to 4 weeks due to the complex nature of DNA sequencing analysis.

• Can this test be performed at home?

Yes, our medical team can visit you to collect the required blood sample in the comfort of your home.

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 (NIH)

Genetic Test for Congenital Diarrhea

About this service

Why is this test performed?

Target Groups

Importance of Gene Sequencing

What is included?

Conditions and notices

Frequently Asked Questions

References and additional resources

Scientific references

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