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ALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic Test

Short Name: ALDH3A2 SLS NGS

Also known as: Sjogren-Larsson Syndrome NGS Test, ALDH3A2 Gene Sequencing, SLS Genetic Test

ALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect disease-causing variants in the ALDH3A2 gene and thereby confirm or rule out a diagnosis of Sjogren-Larsson syndrome. It also supports genetic counselling and family planning decisions.

Test Code
4502
Price
₹20,000
Sample Type
Blood
Result Time
Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. Please carry a valid photo ID, any prior skin biopsy reports, and a written clinical history if available. If the patient is already undergoing genetic counselling, bring the pedigree chart from the counselling session.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small volume of blood from a vein in the arm. The procedure is quick and routinely performed.

Step 3

Report Delivery

The blood sample is labelled, transported to the laboratory at ambient temperature, and processed for DNA extraction. There is no dietary restriction after sample collection.

Timeline: Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting required. The referring physician will document the clinical indication, confirm consent, and request a blood sample. A genetic counselling session may be used to construct a family pedigree.
2
During the Test:The test involves a blood sample collection. The laboratory will extract DNA from the blood and perform NGS for the ALDH3A2 gene.
3
After the Test:The patient or family will be informed when the report is ready. The clinical geneticist or referring specialist will explain the result and discuss next steps, including any need for family member testing.

About This Test

Who Should Get This Test

The purpose of this test is to detect disease-causing variants in the ALDH3A2 gene and thereby confirm or rule out a diagnosis of Sjogren-Larsson syndrome. It also supports genetic counselling and family planning decisions.

How to Prepare

  • Inform the laboratory about all clinical signs, medications, and family history before sample collection
  • Blood should be collected in the appropriate blood collection tube
  • Label the sample clearly with the patient's name, date of birth, and collection date
  • Maintain the sample at ambient temperature before shipping to the laboratory

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This NGS test may be considered when there is strong clinical suspicion of Sjogren-Larsson syndrome based on ichthyosis, developmental delay and spasticity. A clinical genetics consultation is recommended to confirm the indication and to plan post-test counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample VolumeWhole blood sample
ContainerBlood collection tube
Collection MethodVenipuncture

Sample Stability

Whole blood sample is generally stable at ambient temperature for up to 24 hours
Avoid extremes of temperature and do not freeze whole blood before DNA extraction
Sample Rejection Criteria:
  • Clotted, haemolysed, or frozen whole blood sample
  • Unlabelled or mislabelled sample
  • Sample received without clinical history and informed consent
  • Incomplete documentation required for genetic testing

Understanding Your Results

The molecular report will be reviewed by a clinical geneticist. All identified variants are classified using internationally accepted guidelines, and the result is integrated with the referring physician's clinical assessment.
A pathogenic or likely pathogenic variant detected in ALDH3A2 confirms the molecular diagnosis of Sjogren-Larsson syndrome in the appropriate clinical setting.
A variant of uncertain significance (VUS) requires further evaluation and may be resolved by testing both parents or other family members.
A benign or likely benign variant is considered non-disease causing.
No pathogenic variant detected does not exclude SLS; additional gene panel testing or whole exome sequencing may be recommended if clinical features remain unexplained.
⚠️ When to Consult a Doctor:

Consult your referring doctor or a clinical geneticist if you notice ichthyosis with developmental delay, spasticity, seizures, or visual disturbances in yourself or your child, and especially if there is a known family history of Sjogren-Larsson syndrome.

Limitations

  • ⚠This test may not detect large structural rearrangements or deep intronic variants
  • ⚠Variant classification may require additional family segregation studies
  • ⚠A negative result does not exclude the diagnosis if clinical suspicion is high and no other genetic cause was identified
  • ⚠Results should always be evaluated in the context of the patient's complete clinical picture

Risks & Considerations

  • ●Minor pain or bruising at the venipuncture site
  • ●Dizziness or lightheadedness during blood collection
  • ●Very small risk of local infection after skin puncture

Interfering Factors

  • ●Incorrect family or clinical information can affect the interpretation of variants
  • ●Poor quality or degraded DNA may reduce sequencing performance
  • ●Variants in deep intronic or promoter regions may not be covered by targeted NGS

Compare With Similar Tests

TestALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic TestALDH3A2 Single Gene SequencingIchthyosis and Neurocutaneous Disorders NGS PanelWhole Exome Sequencing
ComparisonALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic Test

Frequently Asked Questions

What is Sjogren-Larsson syndrome?
Sjogren-Larsson syndrome is a rare inherited disorder affecting the skin, eyes and central nervous system. It is caused by pathogenic variants in the ALDH3A2 gene and is usually diagnosed in early childhood.
What is the ALDH3A2 gene?
The ALDH3A2 gene provides instructions for producing the enzyme fatty aldehyde dehydrogenase. This enzyme breaks down toxic fatty aldehydes. Mutations in this gene lead to accumulation of fatty aldehydes and cause Sjogren-Larsson syndrome.
What are the symptoms of Sjogren-Larsson syndrome?
Common symptoms include dry scaly skin (ichthyosis), intellectual disability, spasticity, speech problems, seizures, and visual difficulties. Symptoms usually appear in infancy or early childhood.
How is this test performed?
This test is performed by next-generation sequencing (NGS) using DNA extracted from a blood sample. The ALDH3A2 gene is analysed for disease-causing variants, including single nucleotide variants and small insertions/deletions.
What is the sample type required?
The test requires a peripheral venous blood sample. Blood can be collected at home through DNA Labs India's home sample collection service or by visiting a lab centre.
Is fasting required for this NGS genetic test?
No, fasting is not required for this test. The blood sample can be collected at any time of the day.
What is the cost of the ALDH3A2 NGS genetic test at DNA Labs India?
The test price at DNA Labs India is Rs 20,000, which includes home sample collection for online bookings in many cities across India.
How long will it take to get the reports?
Reports are usually available within 3 to 4 weeks after the blood sample reaches the laboratory.
Will I get genetic counselling with this test?
Yes, a genetic counselling session is part of the pre-test process. The counsellor will help draw a pedigree chart of affected family members and explain the implications of the test result.
Who should consider this test?
People with clinical features suggestive of Sjogren-Larsson syndrome, such as ichthyosis with intellectual disability and spasticity, or those with a family history of the disorder, may consider this test after evaluation by a specialist.
What does a positive result mean?
A positive result means a disease-causing pathogenic or likely pathogenic variant was identified in the ALDH3A2 gene. This confirms the molecular diagnosis of Sjogren-Larsson syndrome in the appropriate clinical context.
What does a negative result mean?
A negative result means no pathogenic or likely pathogenic variant was identified in the tested regions of the ALDH3A2 gene. It does not completely exclude SLS if clinical suspicion is strong, and further testing may be advised.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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