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FAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic Test

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FAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic Test

Short Name: FAM126A Gene HLD5 NGS

Also known as: Hypomyelinating Leukodystrophy Type 5 (HLD5) Genetic Test, FAM126A Gene Mutation Analysis, FAM126A-Related Leukodystrophy NGS Test

FAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are dispatched within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The test is intended to detect sequence variants in the FAM126A gene in order to confirm or exclude hypomyelinating leukodystrophy type 5 in symptomatic patients and to provide essential information for genetic counseling and family risk assessment.

Test Code
4195
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are dispatched within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Complete the genetic counseling session and provide family pedigree and clinical history.

Method: Blood draw / FTA card spot / DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood in an EDTA tube. For FTA card samples, a finger-prick blood spot is applied to the card.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be sent to the laboratory for NGS sequencing.

Timeline: Reports are dispatched within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:No fasting is required. Please share detailed clinical history, prior imaging findings, and any previous genetic testing reports. Genetic counseling and pedigree charting are part of the pre-test process.
2
During the Test:A small blood sample is collected, or a dried blood spot is placed on the FTA card. The sample is sent to the DNA Labs India laboratory for targeted NGS analysis.
3
After the Test:There are no restrictions after sample collection. You may leave immediately and will be informed when the report is ready.

About This Test

Who Should Get This Test

The test is intended to detect sequence variants in the FAM126A gene in order to confirm or exclude hypomyelinating leukodystrophy type 5 in symptomatic patients and to provide essential information for genetic counseling and family risk assessment.

How to Prepare

  • No fasting is needed.
  • Please carry a valid government photo ID.
  • Inform the lab about any prior genetic test results.
  • Online bookings include free home sample collection.
  • The sample may be blood, extracted DNA, or an FTA card blood spot.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"A confirmed molecular diagnosis in FAM126A-related leukodystrophy helps families understand recurrence risks and supports informed reproductive planning. Clinical genetic counselling is strongly recommended alongside testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per sample type
ContainerEDTA tube / DNA vial / FTA card
Collection MethodBlood draw / FTA card spot / DNA submission

Sample Stability

Blood: stable up to 72 hours at 2–8°C
Extracted DNA: stable for several months at -20°C
FTA card: stable at room temperature
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient sample quantity
  • Sample collection in an improper container
  • Unlabelled or mislabelled sample

Understanding Your Results

This NGS genetic test examines the FAM126A gene, which is associated with hypomyelinating leukodystrophy type 5. The report is issued in accordance with international variant interpretation guidelines. A clinical geneticist should interpret the result in the context of clinical findings and family history.
📊

No pathogenic variant detected

Negative result; does not completely exclude disease caused by undetected non-coding or structural variants.

📊

Pathogenic variant identified

Positive result; establishes a molecular diagnosis of FAM126A-related hypomyelinating leukodystrophy type 5.

📊

Likely pathogenic variant identified

Highly suggestive of diagnosis; family studies may be needed for confirmation.

📊

Variant of uncertain significance identified

Further testing of family members is required to determine whether the variant is disease-associated.

⚠️ When to Consult a Doctor:

Consult your doctor or a clinical geneticist if the result is positive, if there is a variant of uncertain significance, or if clinical suspicion remains despite a negative result.

Limitations

  • ⚠Targeted NGS detects single nucleotide variants and small insertions/deletions in coding regions and splice sites; it may not detect large duplications or deletions.
  • ⚠Negative result does not exclude leukodystrophy caused by variants in other genes.
  • ⚠Variants of uncertain significance may need family co-segregation studies.
  • ⚠Results should always be correlated with clinical and radiological findings.

Risks & Considerations

  • ●Slight discomfort or bruising at the blood draw site
  • ●The test does not carry significant medical risk
  • ●Possible emotional or psychological impact related to genetic results

Interfering Factors

  • ●Insufficient or degraded DNA
  • ●Contamination from another individual during sample collection
  • ●Recent allogeneic stem cell transplant may alter germline test results
  • ●Variants in non-coding or deep intronic regions may not be detected by standard NGS

Compare With Similar Tests

TestFAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic TestFAM126A Single-Gene NGS TestLeukodystrophy Targeted Gene PanelWhole Exome Sequencing
ComparisonFAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic Test

Frequently Asked Questions

What does the FAM126A gene NGS genetic test screen for?
It uses next-generation sequencing to analyze the FAM126A gene for pathogenic mutations associated with hypomyelinating leukodystrophy type 5.
What is hypomyelinating leukodystrophy type 5?
It is a rare inherited neurological disorder caused by FAM126A gene mutations that affect myelin formation or maintenance, leading to developmental delay, movement problems, and other neurological symptoms.
What is the cost of the FAM126A gene HLD5 NGS test at DNA Labs India?
The test costs INR 20000 (Rs 20000) with free home sample collection for online bookings across India.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long will the reports take?
Reports are normally issued within 3 to 4 weeks after the sample reaches the laboratory.
Who should take this test?
Individuals showing symptoms like delayed development, intellectual disability, muscle weakness, seizures, speech or vision difficulties, and those with a family history of hypomyelinating leukodystrophy.
Is pre-test genetic counselling needed?
Yes, a genetic counselling session is part of the process. It helps draw the family pedigree and assess the history of affected members.
Can home sample collection be arranged?
Yes, DNA Labs India offers free home sample collection for online bookings in many Indian cities.
Will insurance cover this test?
Coverage depends on the policy and insurer. DNA Labs India supports documentation for claims, but pre-approval from the insurance provider is advised.
What does a positive result mean?
A pathogenic variant in the FAM126A gene confirms the molecular diagnosis of FAM126A-related leukodystrophy hypomyelinating type 5. You should discuss the result with a clinical geneticist.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the FAM126A gene regions tested. Other genetic causes of leukodystrophy may still need to be considered based on clinical features.
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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