Genetic Health for Your Child

Argininosuccinate Synthetase (ASS1) Gene Analysis

A precise genetic test to detect mutations in the ASS1 gene causing Citrullinemia Type I, enabling early diagnosis and rapid medical intervention for your child's safety.

Trusted medical contentUpdated: 10-11-2026Views: 0LHL-6755

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the primary purpose of the ASS1 gene test?

It is used to diagnose Argininosuccinate Synthetase deficiency, which causes Citrullinemia Type I.

• Does this genetic test require fasting?

No, fasting is not required before the blood sample collection for this test.

• How does this test aid in patient treatment?

Early diagnosis helps in establishing a diet and treatment plan to prevent toxic ammonia buildup.

• Can the sample be collected at home?

Yes, home sample collection service is available for this test through our platform.

• Who should prioritize taking this test?

Infants with lethargy or persistent vomiting, or those with a known family history of the disorder.

• How long does it take to receive the results?

Genetic results typically take two to three weeks due to the complex nature of the analysis.

Medical Laboratories

Genetic Health for Your Child

Argininosuccinate Synthetase (ASS1) Gene Analysis

A precise genetic test to detect mutations in the ASS1 gene causing Citrullinemia Type I, enabling early diagnosis and rapid medical intervention for your child's safety.

Trusted medical contentUpdated: 10-11-2026Views: 0LHL-6755

View service availability

Service typeGenetic laboratory test

Duration10-15 minutes

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

This test provides comprehensive screening for genetic variations in the ASS1 gene, essential for diagnosing urea cycle disorders and preventing harmful ammonia accumulation to protect the nervous system.

Importance of Genetic Testing

Helps identify the exact genetic cause of elevated ammonia levels.
Confirms the diagnosis of Citrullinemia Type I.
Provides vital information for future family planning.

Who Should Get Tested

Newborns showing symptoms of urea cycle disorders.
Individuals with a family history of ASS1 deficiency.
Patients with unexplained hyperammonemia.

How the Procedure is Performed

A simple blood sample is drawn from the vein.
The sample is sent to the lab for DNA extraction.
The ASS1 gene is analyzed for deletions, duplications, or mutations.

What is included?

✓Blood sample collection
✓Genetic sequencing (ASS1)
✓Detailed medical report

Conditions and notices

Fasting is not required
Family medical history is recommended

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the primary purpose of the ASS1 gene test?

It is used to diagnose Argininosuccinate Synthetase deficiency, which causes Citrullinemia Type I.

• Does this genetic test require fasting?

No, fasting is not required before the blood sample collection for this test.

• How does this test aid in patient treatment?

Early diagnosis helps in establishing a diet and treatment plan to prevent toxic ammonia buildup.

• Can the sample be collected at home?

Yes, home sample collection service is available for this test through our platform.

• Who should prioritize taking this test?

Infants with lethargy or persistent vomiting, or those with a known family history of the disorder.

• How long does it take to receive the results?

Genetic results typically take two to three weeks due to the complex nature of the analysis.

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
Mayo Clinic

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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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