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PLP1 Gene Pelizaeus-Merzbacher disease NGS Genetic Test

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PLP1 Gene Pelizaeus-Merzbacher disease NGS Genetic Test

Short Name: PLP1 PMD NGS Genetic Test

Also known as: PLP1 Gene Mutation Analysis, PMD Genetic Testing, Pelizaeus-Merzbacher Disease NGS Panel

PLP1 Gene Pelizaeus-Merzbacher disease 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 typically available within 3 to 4 weeks from the date of sample receipt. You will receive SMS and email notifications when the report is ready.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the PLP1 gene NGS genetic test is to confirm or exclude a molecular diagnosis of Pelizaeus-Merzbacher disease in symptomatic individuals, identify carriers among at-risk family members, and facilitate informed reproductive and clinical decisions.

Test Code
4449
ICD Code
G37.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks from the date of sample receipt. You will receive SMS and email notifications when the report is ready.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Inform your clinician about any medications or prior genetic testing. A genetic counselling session is recommended before the test.

Method: Venipuncture / Buccal Swab / FTA Card Blood Spot

Step 2

Laboratory Analysis

The sample collection is a routine procedure. For blood, a small volume is drawn from the arm. For FTA card, a simple heel/finger prick may be used. Saliva samples may be collected by spitting into a sterile tube.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately. Results will be communicated through the chosen delivery method in 3 to 4 weeks.

Timeline: Reports are typically available within 3 to 4 weeks from the date of sample receipt. You will receive SMS and email notifications when the report is ready.

Patient Instructions

1
Before the Test:Please complete a genetic counselling session, review your family history with a pedigree chart, and provide all relevant clinical and imaging records.
2
During the Test:The test involves a simple sample collection; you may feel mild discomfort during blood draw. No sedation or special monitoring is required.
3
After the Test:No recovery time needed. Your report will be delivered securely. A follow-up consultation with your physician is advised to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of the PLP1 gene NGS genetic test is to confirm or exclude a molecular diagnosis of Pelizaeus-Merzbacher disease in symptomatic individuals, identify carriers among at-risk family members, and facilitate informed reproductive and clinical decisions.

How to Prepare

  • Blood: 2 mL in EDTA vacutainer, gentle mixing to prevent clotting.
  • Extracted DNA: minimum 1 µg, OD 260/280 between 1.8 and 2.0.
  • FTA Card: Apply one drop of blood onto each circle, air dry completely before packaging.
  • Label the sample container with patient name, date of birth, and date of collection.
  • Ship at room temperature if delivered within 24 hours; otherwise refrigerate blood samples.
  • Do not freeze whole blood.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Pelizaeus-Merzbacher disease is a progressive hypomyelinating disorder. Early genetic confirmation enables timely counselling and supportive care. NGS-based PLP1 analysis is the cornerstone of diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL Blood / 1 µg DNA
ContainerEDTA Vacutainer / Sterile DNA tube / FTA Card
Collection MethodVenipuncture / Buccal Swab / FTA Card Blood Spot

Sample Stability

Whole blood (EDTA): 24-48 hours at room temperature, up to 7 days at 2-8°C
Extracted DNA: stable for 6 months at -20°C
FTA card blood spot: stable for 1 year at room temperature
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Mislabeled or unlabeled sample
  • Sample received beyond stability window
  • Insufficient DNA quantity or degraded DNA
  • FTA card with insufficient blood or improper drying

Understanding Your Results

The genetic test report classifies variants based on ACMG/AMP guidelines. Pathogenic or likely pathogenic variants in PLP1 confirm the diagnosis of Pelizaeus-Merzbacher disease. Benign variants do not explain the phenotype. Variants of uncertain significance (VUS) are reported with recommendations for further analysis.
📊

No pathogenic variant detected in PLP1 gene.

Presence of PMD is unlikely due to PLP1 coding/splice-site mutations. Other genetic causes should be considered.

📊

Pathogenic or likely pathogenic variant detected.

Consistent with a molecular diagnosis of Pelizaeus-Merzbacher disease. Genetic counselling and family testing are recommended.

📊

A genetic variant with unclear clinical significance is identified.

Further family studies and functional analysis may help reclassify. Correlate with clinical and neuroimaging findings.

⚠️ When to Consult a Doctor:

Consult your neurologist or clinical geneticist if you have symptoms suggestive of PMD or if a close family member has been diagnosed with the condition. Also, if a PLP1 variant is identified, seek genetic counselling for reproductive planning.

Limitations

  • ⚠Large deletions or duplications of the PLP1 gene may not be detected by standard NGS; MLPA or array CGH is recommended if suspected.
  • ⚠Deep intronic variants and regulatory region mutations are not covered.
  • ⚠Variants of uncertain significance may require further familial segregation studies.
  • ⚠Absolute risk of disease cannot be predicted solely from a positive result due to variable expressivity and incomplete penetrance.
  • ⚠This test is not intended for prenatal diagnosis unless specifically requested and validated.

Risks & Considerations

  • ●There are no significant risks associated with the sample collection process. Slight bruising or pain at the venipuncture site may occur.
  • ●No physical risks from the genetic test itself; potential psychological/emotional impact of results, which is why genetic counselling is recommended.

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Maternal cell contamination if a prenatal/chromosomal sample is used
  • ●Mosaic mutations below the detection threshold of NGS (~5%)
  • ●Presence of pseudogene interference if targeted enrichment is not specific

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Frequently Asked Questions

What is Pelizaeus-Merzbacher disease (PMD)?
Pelizaeus-Merzbacher disease is a rare, X-linked genetic disorder affecting the central nervous system. It is caused by mutations in the PLP1 gene, impairing myelin production and leading to developmental delay, motor dysfunction, and neurological deterioration.
How is this NGS genetic test for PLP1 gene performed?
The test uses Next-Generation Sequencing technology to read the entire coding region and splice sites of the PLP1 gene. A blood, saliva, or FTA card sample is collected and processed in our NGS platform.
What is the cost of the PLP1 gene NGS genetic test at DNA Labs India?
The discounted price is INR 20,000. This includes free home sample collection, genetic counselling, clinical report, and raw data files (FASTQ and VCF).
How long does it take to get the results?
Results are typically available within 3 to 4 weeks from the date the sample is received at the laboratory.
What conditions or symptoms warrant this test?
Individuals with nystagmus, hypotonia, developmental delay, progressive spasticity, ataxia, or MRI evidence of hypomyelination may be considered for this test. A positive family history of PMD also warrants testing.
Can this test be performed on children and infants?
Yes, the test is suitable for individuals of any age, including newborns and children. A blood or saliva sample can be collected safely.
Will the test detect all types of PLP1 mutations?
This NGS test detects single nucleotide variants, small insertions and deletions, and splice-site variants. It does not detect large gene deletions or duplications; MLPA is recommended for those if clinically indicated.
What do I need to prepare before the test?
No fasting is required. You are advised to complete a genetic counselling session before sample collection. Bring any previous imaging or clinical records for better interpretation.
Are raw data files provided with the test report?
Yes, DNA Labs India is transparent and provides raw data (FASTQ) and variant call (VCF) files along with the conclusive clinical report.
Can this test be used for prenatal diagnosis?
This test is intended for diagnostic and carrier testing. For prenatal testing, a separate chorionic villus sampling or amniocentesis procedure and specific validation are required; please consult your genetic counsellor.
Are there any risks or side effects?
The test involves routine sample collection and carries minimal risk, such as slight pain or bruising at the blood draw site. No significant physical side effects are known.
Is genetic counselling included in the test price?
Yes, a genetic counselling session is included before testing to draw a pedigree chart and explain the implications of the test, after which you will receive clinical guidance.
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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