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MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic Test

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MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic Test

Short Name: MTPAP Ataxia NGS

Also known as: Spastic Ataxia Type 4, MTPAP-Related Ataxia, Autosomal Recessive Spastic Ataxia Type 4

MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are usually made available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 purpose of this NGS genetic test is to detect pathogenic mutations in the MTPAP gene, supporting the clinical diagnosis of autosomal recessive spastic ataxia type 4 and enabling appropriate genetic counseling and clinical management.

Test Code
4514
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually made available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special dietary preparation is required. A pre-test genetic counseling session may be arranged to draw a family pedigree and review clinical history.

Method: Blood draw, Extracted DNA submission, or FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood in an EDTA tube, or a one-drop blood sample may be collected on an FTA card by a healthcare professional.

Step 3

Report Delivery

There are no restrictions after sample collection. The sample should be transported to the laboratory as per instructions.

Timeline: Reports are usually made available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counseling session is recommended to document family history and explain the purpose, benefits, and limitations of the test.
2
During the Test:Blood is collected by venipuncture. For FTA cards, one drop of blood is applied to the card and allowed to dry.
3
After the Test:There are no restrictions. The laboratory will process the sample and release a clinical report to the prescribing physician or directly to the patient as per consent.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic mutations in the MTPAP gene, supporting the clinical diagnosis of autosomal recessive spastic ataxia type 4 and enabling appropriate genetic counseling and clinical management.

How to Prepare

  • Use an EDTA tube for whole blood collection
  • For FTA card, apply one drop of blood to the indicated spot and allow it to dry
  • Label the sample with the patient's full name, date, and time of collection
  • Ensure the sample is not contaminated or exposed to excessive heat
  • Send extracted DNA in a properly labeled tube with the patient identifier

Doctor's Notes

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

"Every patient with progressive gait disturbance and spasticity should be evaluated with a detailed family history. When MTPAP-related ataxia is suspected, a complete NGS panel followed by genetic counseling helps in accurate medical and reproductive decision-making."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / FTA card
Collection MethodBlood draw, Extracted DNA submission, or FTA card

Sample Stability

Whole blood in EDTA: 7 days at 2-8°C
Extracted DNA: stable at -20°C for several months
FTA card: stable at ambient temperature when stored dry
Sample Rejection Criteria:
  • Unlabeled or mislabeled sample
  • Hemolysed or clotted blood sample
  • Insufficient sample quantity
  • Sample received in a non-EDTA anticoagulant tube
  • Damaged or wet FTA card

Understanding Your Results

The MTPAP NGS report should always be interpreted by a clinical geneticist in the context of the patient's clinical picture, family history, and neuroimaging findings. Genetic counseling is recommended for both positive and uncertain results.
📊

Pathogenic or likely pathogenic variant in MTPAP

Supports the diagnosis of autosomal recessive spastic ataxia type 4 when clinical features are consistent.

📊

Variant of uncertain significance

Further segregation analysis and clinical correlation are needed before concluding causality.

📊

No pathogenic variant detected

MTPAP-related ataxia is less likely, but other genetic or acquired causes should be considered.

⚠️ When to Consult a Doctor:

If you receive a positive result or a variant of uncertain significance, please consult a clinical geneticist, neurologist, or a genetic counselor for detailed medical and reproductive advice.

Limitations

  • ⚠NGS may not detect all mutation types including large deletions, duplications, or complex rearrangements.
  • ⚠A negative result does not exclude a genetic cause in another ataxia-related gene.
  • ⚠Variants of uncertain significance may not provide a definite clinical diagnosis.
  • ⚠Clinical interpretation requires correlation with symptoms, imaging, and family history.

Risks & Considerations

  • ●Mild pain, bruising, or infection at the venipuncture site
  • ●Psychological impact of finding a genetic cause in the family
  • ●Possibility of incidental findings or variants of uncertain significance

Interfering Factors

  • ●DNA contamination from another person or sample
  • ●Recent allogeneic bone marrow transplant or blood transfusion may affect germline testing
  • ●Low-quality DNA due to improper sample storage or transport
  • ●Large structural variants not reliably detected by standard NGS

Compare With Similar Tests

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Frequently Asked Questions

What is the MTPAP gene?
The MTPAP gene provides instructions for mitochondrial poly(A) polymerase. Pathogenic variants in this gene cause autosomal recessive spastic ataxia type 4.
What does the MTPAP gene NGS genetic test evaluate?
It evaluates the coding exons and flanking splice sites of the MTPAP gene for pathogenic variants using next-generation sequencing technology.
What is the cost of this genetic test in India?
The test cost is INR 20000.0 at DNA Labs India, with free home sample collection for online bookings.
What sample type is required?
The test can be performed on blood, extracted DNA, or a one-drop blood FTA card sample.
Is fasting needed before the blood sample?
No, fasting is not required for this NGS genetic test.
How long does the report take?
Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data with the report?
DNA Labs India shares FASTQ, VCF, and raw data files along with the conclusive clinical report.
Who should consider this test?
Individuals with childhood-onset ataxia, spasticity, tremors, speech difficulty, or intellectual disability, or a family history suggestive of autosomal recessive spastic ataxia type 4.
Can NGS detect all MTPAP mutations?
NGS reliably detects single nucleotide variants and small insertions/deletions in the MTPAP gene, but may not detect large deletions, complex rearrangements, or certain repeat expansions.
What does a negative result mean?
A negative result means no pathogenic variant was identified in MTPAP; however, it does not exclude a genetic cause from another gene and clinical correlation is advised.
How should my result be interpreted?
Results are reviewed by a clinical geneticist in the context of your clinical history, imaging findings, and family pedigree; genetic counseling is recommended.
Can I book the test outside major cities?
DNA Labs India offers free home sample collection for online bookings across multiple cities in India; please check service availability for your location.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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