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PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test

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PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test

Short Name: PTDSS1 LMHD NGS Test

Also known as: Lenz-Majewski Hyperostotic Dwarfism, LMHD

PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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

To identify mutations in the PTDSS1 gene for diagnosis of Lenz-Majewski hyperostotic dwarfism, enabling genetic counseling and management planning.

Test Code
2756
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick; FTA card for one drop blood.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising; store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection is minimally invasive, involving a blood draw or finger prick.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the PTDSS1 gene for diagnosis of Lenz-Majewski hyperostotic dwarfism, enabling genetic counseling and management planning.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label samples accurately
  • Transport at ambient room temperature

Doctor's Notes

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

"This NGS test is essential for accurate diagnosis of Lenz-Majewski hyperostotic dwarfism, enabling targeted management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PTDSS1 gene. Positive results confirm LMHD diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of Lenz-Majewski hyperostotic dwarfism; genetic counseling recommended.

📊

No pathogenic variant detected

LMHD unlikely but clinical correlation needed; consider other genetic tests.

📊

Variant of uncertain significance (VUS)

Further family studies and clinical evaluation required.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician if symptoms of LMHD are present, or for interpretation of test results and genetic counseling.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions/duplications)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may be inconclusive in some cases

Risks & Considerations

  • ●Minor bruising at collection site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestPTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic TestSkeletal Dysplasia PanelWhole Exome SequencingChromosomal MicroarrayOther Gene-Specific Tests for Dwarfism
ComparisonPTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic TestCovers multiple genes for skeletal disorders, broader but less specific than PTDSS1 test.Comprehensive genetic analysis, higher cost, used when specific gene tests are inconclusive.Detects chromosomal abnormalities, not specific for LMHD.Targeted tests for other dwarfism-related genes, may be complementary.

Frequently Asked Questions

What is Lenz-Majewski hyperostotic dwarfism?
Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare genetic disorder characterized by skeletal abnormalities, intellectual disability, and distinct facial features.
What causes LMHD?
LMHD is caused by mutations in the PTDSS1 gene, which affects phosphatidylserine synthase 1 enzyme function, disrupting cell membrane formation.
What are the common symptoms of LMHD?
Symptoms include short stature, abnormal bone growth, intellectual disability, delayed speech, distinct facial features, abnormal dentition, and recurrent infections.
How is LMHD diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as NGS to identify mutations in the PTDSS1 gene.
What is the PTDSS1 Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the PTDSS1 gene for mutations associated with LMHD.
How is the test performed?
The test requires a blood sample or extracted DNA, analyzed using NGS technology in a laboratory.
What is the cost of the PTDSS1 gene test in India?
The cost is approximately INR 20,000 at DNA Labs India, with possible variations.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate if pathogenic variants are detected in the PTDSS1 gene, confirming or ruling out LMHD diagnosis.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is recommended before testing to draw a pedigree chart and discuss implications.
What are the next steps after diagnosis?
After diagnosis, consult a healthcare provider for management plans, which may include supportive care, therapy, and genetic counseling for family planning.
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.

LIMS Integration

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Your medical data is protected under Indian law.

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

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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