• Who should undergo this testing?

Individuals with scaling skin symptoms since birth or families with a history of lamellar ichthyosis.

• Is home collection available for this test?

Yes, home blood collection is available for this genetic test to ensure your comfort and privacy.

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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 using Next-Generation Sequencing (NGS) to identify mutations in the TGM1 gene responsible for congenital lamellar ichthyosis, supporting precise diagnosis and genetic counseling.

Clinical Significance

Confirms the diagnosis of Lamellar Ichthyosis Type 1.
Identifies disease-causing mutations with high precision.
Provides essential information for family genetic counseling.

Target Groups

Infants or children showing symptoms of severe scaling and skin dryness.
Individuals with a family history of lamellar ichthyosis.
Couples planning pregnancy with a known genetic risk factor.

Understanding Results

A positive result indicates a mutation in the TGM1 gene associated with the disorder.
A negative result may exclude mutations specifically in this gene.
Results should be interpreted by a clinical geneticist or dermatologist.

What is included?

✓Blood sample collection
✓Full TGM1 gene sequencing analysis
✓Detailed medical report of results

Conditions and notices

Fasting is not required
Preferable to bring previous medical reports
Fasting is not required before sample collection

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the TGM1 gene test?

It is a genetic test that sequences the entire TGM1 gene to detect mutations causing congenital lamellar ichthyosis.

• Does this test require fasting?

No, fasting is not required for this test; the blood sample can be collected at any time.

• How long does it take to get the results?

Due to the complexity of genetic sequencing, results typically take between 3 to 4 weeks.

• How is the sample collected?

The sample is collected via a standard venous blood draw, which can be done in the lab or at home.

Service resources and references

References and additional resources

Reference material and files associated with this service when available.

Scientific references

National Center for Biotechnology Information (NCBI)
Genetics Home Reference (MedlinePlus)

TGM1 Gene Sequencing Test

About this service

Clinical Significance

Target Groups

Understanding Results

What is included?

Conditions and notices

Frequently Asked Questions

References and additional resources

Scientific references

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