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LZTR1 Gene Noonan syndrome type 10 NGS Genetic Test

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LZTR1 Gene Noonan syndrome type 10 NGS Genetic Test

Short Name: LZTR1 NGS

Also known as: LZTR1 Gene Sequencing, Noonan Syndrome Type 10 Genetic Test, LZTR1 Mutation Analysis

LZTR1 Gene Noonan syndrome type 10 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 delivered within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS🏠 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 test is to identify pathogenic mutations in the LZTR1 gene that are associated with Noonan syndrome type 10. This helps confirm a clinical diagnosis, guide management, and provide information for family planning.

Test Code
5868
CPT Code
81407
ICD Code
Q87.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No special preparation required. However, a genetic counseling session is recommended to understand the purpose, risks, and benefits of testing.
2
During the Test:A blood sample is collected. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities. Results will be available in 3-4 weeks and will be communicated via your preferred method.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the LZTR1 gene that are associated with Noonan syndrome type 10. This helps confirm a clinical diagnosis, guide management, and provide information for family planning.

How to Prepare

  • Ensure the sample is collected in an EDTA tube for blood.
  • For FTA card, apply one drop of blood on the designated circle.
  • Label the sample with patient's name and date of birth.
  • Transport the sample to the laboratory at ambient temperature.

Doctor's Notes

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

"Genetic testing for Noonan syndrome type 10 is crucial for accurate diagnosis and management. The NGS approach ensures comprehensive detection of LZTR1 mutations, aiding in early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: 24 hours at room temperature, 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The interpretation of the LZTR1 gene test is based on the presence or absence of pathogenic variants. A positive result confirms the diagnosis of Noonan syndrome type 10, while a negative result does not exclude the condition if clinical suspicion is high.
📊

Pathogenic variant detected

Confirms diagnosis of Noonan syndrome type 10. Genetic counseling and family screening recommended.

📊

Likely pathogenic variant detected

Highly suggestive of disease; further evidence may be needed for definitive classification.

📊

Variant of uncertain significance (VUS)

Cannot be used for diagnosis; additional testing of family members may help clarify.

📊

No pathogenic variant detected

Does not rule out Noonan syndrome; consider testing other genes or alternative diagnoses.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatrician if you or your child have features suggestive of Noonan syndrome, or if you have a family history of the condition. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠This test detects mutations in the LZTR1 gene only; other genes associated with Noonan syndrome are not analyzed.
  • ⚠Variant of uncertain significance (VUS) may require further family studies.
  • ⚠Large genomic rearrangements may not be detected by this NGS method.
  • ⚠Test results should be interpreted in the context of clinical findings.

Risks & Considerations

  • ●Bruising or bleeding at the puncture site
  • ●Infection (rare)
  • ●Psychological impact of results
  • ●Potential for incidental findings

Interfering Factors

  • ●Poor quality DNA sample
  • ●Contamination during sample collection
  • ●Incomplete clinical information
  • ●Presence of large deletions/duplications not detected by standard NGS

Compare With Similar Tests

TestLZTR1 Gene Noonan syndrome type 10 NGS Genetic TestNoonan Syndrome Panel (Multiple Genes)Whole Exome SequencingTargeted LZTR1 Single Gene Test
ComparisonLZTR1 Gene Noonan syndrome type 10 NGS Genetic Test

Frequently Asked Questions

What is Noonan syndrome type 10?
Noonan syndrome type 10 is a genetic disorder caused by mutations in the LZTR1 gene. It is characterized by distinctive facial features, short stature, heart defects, and other developmental issues.
How is the LZTR1 gene test performed?
The test uses Next Generation Sequencing (NGS) to analyze the LZTR1 gene for mutations. A blood sample or extracted DNA is required.
What is the cost of the LZTR1 gene test at DNA Labs India?
The test costs INR 20000, which includes genetic counseling, sequencing, analysis, and a detailed report.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after the sample is received.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can the test be done on a saliva sample?
The test accepts blood or extracted DNA. Saliva is not listed as an accepted sample type.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the LZTR1 gene, confirming the diagnosis of Noonan syndrome type 10.
What if the result is negative?
A negative result does not completely rule out Noonan syndrome, as mutations in other genes may be responsible. Further testing may be recommended.
Is genetic counseling included?
Yes, a genetic counseling session is included to help you understand the test and its implications.
Can this test be used for prenatal diagnosis?
This test is not intended for prenatal diagnosis. For prenatal testing, please consult with a specialist.
Are there any risks associated with the test?
The test involves a simple blood draw, which carries minimal risks such as bruising or infection. There are no other significant risks.
How can I book the test?
You can book online through our website or contact our customer care. Home sample collection is available for online bookings.
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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