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maternal UPD chr. 14 Gene Temple syndrome NGS Genetic Test

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maternal UPD chr. 14 Gene Temple syndrome NGS Genetic Test

Short Name: Maternal UPD14 NGS

Also known as: Temple Syndrome NGS, UPD14 Genetic Test, Maternal Uniparental Disomy 14 Test

maternal UPD chr. 14 Gene Temple syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Methylation analysis, Microsatellite analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. 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

The purpose of this test is to confirm the diagnosis of Maternal UPD chr. 14 Gene Temple Syndrome in individuals presenting with suggestive clinical features or a family history of the condition. It also helps in genetic counseling, prognosis assessment, and guiding management strategies.

Test Code
5952
CPT Code
81405
ICD Code
Q93.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Methylation analysis, Microsatellite analysis
Step 1

Sample Collection

No special preparation required. However, a genetic counseling session is recommended to draw a pedigree chart and discuss the implications of the test.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a few drops of blood are placed on the card and allowed to dry.

Step 3

Report Delivery

No specific aftercare needed. The sample is transported to the laboratory for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to discuss the purpose, risks, and benefits of the test. The counselor will draw a pedigree chart to assess inheritance patterns.
2
During the Test:The test involves a simple blood draw or FTA card sample collection. No pain or discomfort is expected.
3
After the Test:Results are typically available in 3-4 weeks. The referring physician or genetic counselor will discuss the results and their implications.

About This Test

Who Should Get This Test

The purpose of this test is to confirm the diagnosis of Maternal UPD chr. 14 Gene Temple Syndrome in individuals presenting with suggestive clinical features or a family history of the condition. It also helps in genetic counseling, prognosis assessment, and guiding management strategies.

How to Prepare

  • Ensure the patient's identity is verified.
  • Use EDTA vacutainer for blood collection.
  • If using FTA card, label with patient details and allow to air dry.
  • Transport samples at ambient temperature.

Doctor's Notes

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

"Early diagnosis of Temple syndrome is crucial for managing growth and developmental delays. This NGS test provides definitive molecular confirmation, enabling timely intervention and genetic 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 5 µg DNA
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood: 24 hours at room temperature, 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: Stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

The test results are interpreted by a clinical geneticist. A positive result indicates the presence of maternal UPD 14 or associated genetic changes, confirming the diagnosis of Temple syndrome. A negative result does not completely rule out the condition, and further testing may be recommended based on clinical suspicion.
📊

Positive for maternal UPD 14

Confirms diagnosis of Temple syndrome. Clinical management should focus on growth, development, and associated symptoms.

📊

Negative for maternal UPD 14

No evidence of maternal UPD 14. Other genetic causes may be considered if symptoms persist.

📊

Variant of uncertain significance

A genetic variant was found but its clinical significance is unclear. Further family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a pediatrician or clinical geneticist if the child shows symptoms such as low birth weight, hypotonia, developmental delays, or if there is a family history of Temple syndrome. Early consultation can lead to timely diagnosis and management.

Limitations

  • ⚠This test does not detect all possible genetic causes of Temple syndrome; rare mutations may be missed.
  • ⚠Results should be interpreted in the context of clinical findings and family history.
  • ⚠Genetic counseling is recommended for result interpretation.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for incidental findings

Interfering Factors

  • ●Maternal cell contamination in fetal samples
  • ●Low DNA quality or quantity
  • ●Recent blood transfusion (within 2 weeks)
  • ●Bone marrow transplantation

Compare With Similar Tests

Testmaternal UPD chr. 14 Gene Temple syndrome NGS Genetic TestChromosomal Microarray (CMA)Methylation-Specific MLPASanger Sequencing
Comparisonmaternal UPD chr. 14 Gene Temple syndrome NGS Genetic TestCMA detects copy number changes but does not detect UPD. NGS test is more specific for UPD14.MLPA can detect methylation defects but may not cover all genes. NGS provides comprehensive analysis.Sanger is limited to single genes; NGS can analyze multiple genes and UPD simultaneously.

Frequently Asked Questions

What is Maternal UPD chr. 14 Gene Temple Syndrome?
It is a rare genetic disorder caused by inheriting both copies of chromosome 14 from the mother, leading to abnormal gene expression and symptoms like low birth weight, hypotonia, and developmental delay.
How is this test performed?
A blood sample or FTA card sample is collected. DNA is extracted and analyzed using Next-Generation Sequencing to detect maternal UPD 14 and related genetic changes.
What is the cost of the test?
The test costs INR 20000, which includes home sample collection, analysis, and a detailed clinical report.
Is fasting required before the test?
No, fasting is not required. The test can be done at any time of the day.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Will I receive raw data files?
Yes, DNA Labs India provides raw data files (FASTQ, VCF) along with the clinical report for transparency.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What is the sample type required?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
Can this test be done for children?
Yes, the test is suitable for pediatric patients, especially those with symptoms suggestive of Temple syndrome.
What is the turnaround time?
The turnaround time is 3 to 4 weeks.
Are there any risks associated with the test?
The test is non-invasive and painless. The only risk is minimal bruising at the blood draw site.
What should I do if the test is positive?
If the test is positive, consult a clinical geneticist or pediatrician for further management and genetic counseling.
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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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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