Skip to main content
DNA Labs India

UPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

UPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test

Short Name: UPD chr. 6 TNDM Type 1 NGS Test

Also known as: 6q24 TNDM Genetic Test, Transient Neonatal Diabetes Chromosome 6q24 Test, UPD6 TNDM Type 1 Genetic Test, PLAGL1/HYMAI-related Neonatal Diabetes NGS Test, Paternal UPD Chromosome 6 Neonatal Diabetes Test

UPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Copy Number Variation Analysis, Loss of Heterozygosity (LOH) / UPD Analysis, Methylation Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are available within 3 to 4 weeks from the date of sample collection. Reports are delivered via the patient's preferred method: online portal access, email, or WhatsApp. Urgent cases may be prioritized upon request.. Free home collection in 300+ cities across India.

NGS Genetic TestNeonatal / Pediatric / Adult🏠 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

This test is performed to identify genetic abnormalities at the chromosome 6q24 region, including paternal uniparental disomy (UPD6), paternal duplication of 6q24, or methylation defects at the PLAGL1/HYMAI locus, which are the known molecular causes of transient neonatal diabetes mellitus type 1. Accurate molecular diagnosis guides appropriate neonatal treatment with insulin, predicts the likelihood and timing of diabetes relapse, informs genetic counseling for affected families, and supports informed reproductive decision-making. The test may also be used for prenatal or preconception carrier assessment in families with a known history of the condition.

Test Code
1884
ICD Code
P70.2
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are available within 3 to 4 weeks from the date of sample collection. Reports are delivered via the patient's preferred method: online portal access, email, or WhatsApp. Urgent cases may be prioritized upon request.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Copy Number Variation Analysis, Loss of Heterozygosity (LOH) / UPD Analysis, Methylation Analysis
Step 1

Sample Collection

No special preparation or fasting is required for this genetic test. A genetic counseling session is recommended before testing to review the clinical history and draw a pedigree chart of family members affected with 6q24-related TNDM. Please bring a valid photo identification document and any relevant medical records, including neonatal diabetes diagnosis reports and family history documentation.

Method: Venipuncture (heel prick for neonates if applicable)

Step 2

Laboratory Analysis

A blood sample of 3–5 mL will be collected via venipuncture from a vein in the arm using an EDTA (lavender-top) tube. For neonates or infants, a heel prick sample may be used, or one drop of blood can be placed on an FTA card. Alternatively, previously extracted DNA may be submitted. The collection procedure typically takes only a few minutes and is performed by a trained phlebotomist.

Step 3

Report Delivery

After sample collection, gentle pressure will be applied to the needle site with a cotton ball or bandage. You may resume normal activities immediately. Minor bruising or soreness at the collection site is common and typically resolves within 1–2 days. The sample will be transported to the laboratory under appropriate conditions for DNA extraction and NGS analysis.

Timeline: Results are available within 3 to 4 weeks from the date of sample collection. Reports are delivered via the patient's preferred method: online portal access, email, or WhatsApp. Urgent cases may be prioritized upon request.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is strongly recommended. During this session, the clinical geneticist or genetic counselor will review the patient's clinical history, draw a detailed pedigree chart of family members affected with 6q24-related transient neonatal diabetes mellitus, and discuss the implications, benefits, and limitations of genetic testing. No fasting is required. Bring all relevant medical records including neonatal diabetes diagnosis, growth charts, and any previous genetic test results.
2
During the Test:The blood sample or DNA extract undergoes DNA extraction (if needed), library preparation, and sequencing on a Next-Generation Sequencing (NGS) platform. The 6q24 chromosomal region is analyzed for single nucleotide variants, small insertions/deletions, copy number variations (duplications/deletions), loss of heterozygosity indicating uniparental disomy, and methylation status at the differentially methylated region (DMR). The entire laboratory process is performed in a NABL-accredited facility.
3
After the Test:Results are typically available within 3 to 4 weeks. A comprehensive clinical test report is generated, detailing any genetic variants identified, their classification (pathogenic, likely pathogenic, VUS, likely benign, or benign), and their clinical significance. DNA Labs India also provides raw data files (FASTQ and VCF) for transparency and independent verification. Post-test genetic counseling is recommended to discuss the results, their implications for the patient and family, treatment options, and reproductive planning.

About This Test

Who Should Get This Test

This test is performed to identify genetic abnormalities at the chromosome 6q24 region, including paternal uniparental disomy (UPD6), paternal duplication of 6q24, or methylation defects at the PLAGL1/HYMAI locus, which are the known molecular causes of transient neonatal diabetes mellitus type 1. Accurate molecular diagnosis guides appropriate neonatal treatment with insulin, predicts the likelihood and timing of diabetes relapse, informs genetic counseling for affected families, and supports informed reproductive decision-making. The test may also be used for prenatal or preconception carrier assessment in families with a known history of the condition.

How to Prepare

  • No fasting is required before sample collection for this genetic test
  • Bring a valid government-issued photo ID and any relevant medical records
  • Wear clothing with easy access to the upper arm for blood collection
  • For neonates and infants, ensure the child is comfortable and calm; a heel prick or FTA card sample may be used
  • If submitting extracted DNA, ensure it is transported at appropriate temperature (2–8°C or as advised)
  • Free home sample collection is available across India when booked online through DNA Labs India

Doctor's Notes

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

"For families with a history of neonatal diabetes or unexplained hyperglycemia in newborns, identifying 6q24-related TNDM Type 1 through NGS genetic testing is invaluable. Early molecular diagnosis guides appropriate neonatal management, predicts the likelihood of diabetes relapse in adolescence or adulthood, and enables informed genetic counseling and reproductive planning for families. I recommend this test for any neonate presenting with diabetes in the first six months of life, particularly when accompanied by intrauterine growth restriction."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL (EDTA blood) or equivalent DNA extract
ContainerEDTA (Lavender-top) tube or FTA Card
Collection MethodVenipuncture (heel prick for neonates if applicable)

Sample Stability

EDTA whole blood: Stable at room temperature (15–25°C) for up to 48 hours
EDTA whole blood: Stable at 2–8°C for up to 7 days
FTA Card with blood spot: Stable at room temperature indefinitely when stored in a sealed bag
Extracted DNA: Stable at –20°C for long-term storage; stable at 2–8°C for short-term use
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample in EDTA tube
  • Insufficient sample volume (less than 2 mL of blood)
  • Improperly labeled or unlabeled samples
  • Contaminated samples
  • Samples received without proper documentation or requisition form
  • Samples collected in incorrect container (e.g., heparin or sodium fluoride tubes)

Understanding Your Results

Results of the UPD chr. 6 Gene 6q24-related TNDM Type 1 NGS Genetic Test should be interpreted by a qualified clinical geneticist or genetic counselor in conjunction with the patient's clinical presentation, neonatal history, and family pedigree. The following are possible findings and their interpretations:
📊

No genetic evidence of 6q24-related TNDM Type 1 was identified. Clinical correlation is recommended, and other genetic or non-genetic causes of neonatal diabetes should be considered.

📊

Diagnosis of 6q24-related TNDM Type 1 confirmed. Both copies of chromosome 6 are of paternal origin, leading to biallelic expression of PLAGL1/HYMAI genes and neonatal diabetes.

📊

Diagnosis of 6q24-related TNDM Type 1 confirmed. An extra copy of the paternal 6q24 region results in overexpression of PLAGL1/HYMAI genes. Parental testing may be recommended.

📊

Consistent with 6q24-related TNDM Type 1 due to an imprinting defect. The maternal allele lacks proper methylation, leading to biallelic gene expression. Clinical correlation and family studies recommended.

📊

A genetic variant was detected at the 6q24 region, but its clinical significance is currently unknown. Follow-up testing, segregation analysis in family members, and clinical monitoring are recommended. The variant may be reclassified as more evidence becomes available.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, pediatric endocrinologist, or neonatologist if your newborn presents with unexplained hyperglycemia, intrauterine growth restriction, dehydration, or failure to thrive within the first six months of life. Early medical consultation enables timely genetic diagnosis, appropriate initiation of insulin therapy, and long-term management planning. Additionally, families with a known history of transient neonatal diabetes should seek genetic counseling before planning future pregnancies.

Limitations

  • ⚠This test specifically targets the 6q24 chromosomal region and may not detect other genetic causes of neonatal diabetes (e.g., KCNJ11, ABCC8, INS gene mutations)
  • ⚠Low-level mosaicism for UPD6 or 6q24 duplication may not be fully detected by NGS
  • ⚠Results should always be interpreted in conjunction with clinical findings, family history, and other diagnostic investigations
  • ⚠This test does not replace comprehensive metabolic, endocrine, or neonatal screening evaluations
  • ⚠Variants of uncertain significance (VUS) may be identified, requiring additional studies or longitudinal follow-up for reclassification

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site, which typically resolves within 1–2 days
  • ●Very small risk of infection or hematoma at the venipuncture site
  • ●Psychological or emotional impact of receiving a genetic diagnosis for the child or family
  • ●Potential implications for other family members who may carry the same genetic variant or condition
  • ●Insurance or employment implications in some jurisdictions (though genetic information is protected under applicable Indian laws)

Interfering Factors

  • ●Recent blood transfusion (within the past 3 months) may introduce donor DNA and affect genetic analysis results
  • ●Sample contamination during collection, transport, or processing
  • ●Degraded DNA due to improper storage conditions or delayed sample processing
  • ●Use of an incorrect blood collection container (e.g., heparin tube instead of EDTA)

Compare With Similar Tests

TestUPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test
ComparisonUPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test

Frequently Asked Questions

What is UPD chr. 6 Gene 6q24-related Transient Neonatal Diabetes Mellitus Type 1?
UPD chr. 6 Gene 6q24-related Transient Neonatal Diabetes Mellitus Type 1 (TNDM1) is a rare genetic form of diabetes that occurs in neonates within the first six months of life. It is caused by genetic abnormalities at the 6q24 chromosomal region, which lead to overexpression of the PLAGL1 (ZAC) and HYMAI genes. These abnormalities include paternal uniparental disomy of chromosome 6 (UPD6), paternal duplication of the 6q24 region, or loss of methylation at the maternal 6q24 differentially methylated region. While the diabetes often resolves by 18 months, approximately half of patients experience relapse later in life.
What causes 6q24-related TNDM Type 1?
The condition is caused by overexpression of the PLAGL1 (ZAC) and HYMAI genes at chromosome 6q24. This overexpression results from one of three possible molecular mechanisms: (1) paternal uniparental disomy of chromosome 6 (UPD6), where both copies of chromosome 6 are inherited from the father; (2) paternal duplication of the 6q24 region, resulting in an extra copy of paternal genes; or (3) a methylation defect at the maternal 6q24 locus, leading to loss of silencing of the maternal allele. All three mechanisms result in biallelic expression of the imprinted genes and subsequent neonatal diabetes.
What are the symptoms of 6q24-related TNDM Type 1 in newborns?
Symptoms typically appear within the first weeks of life and may include intrauterine growth restriction (IUGR), severe hyperglycemia, dehydration, excessive thirst, frequent urination, failure to thrive, and in some cases, macroglossia (enlarged tongue) or umbilical hernia. The diabetes is usually diagnosed in the first six months of life. While it often remits by 18 months of age, parents and clinicians should be aware that relapse can occur during adolescence or early adulthood.
How is the UPD chr. 6 Gene 6q24 NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) technology to comprehensively analyze the 6q24 chromosomal region. The process involves DNA extraction from the submitted sample, library preparation, sequencing on an NGS platform, and bioinformatic analysis to identify single nucleotide variants, small insertions/deletions, copy number variations, uniparental disomy (loss of heterozygosity), and methylation abnormalities. The entire process is performed in a NABL-accredited and ISO-certified laboratory.
What sample is required for this genetic test?
The test can be performed using one of the following sample types: (1) 3–5 mL of venous blood collected in an EDTA (lavender-top) tube, (2) previously extracted DNA, or (3) one drop of blood on an FTA card. For neonates, a heel prick sample or blood on an FTA card may be used. DNA Labs India offers free home sample collection across India when the test is booked online.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks from the date of sample collection. The comprehensive clinical test report will be delivered through your preferred method: online portal access, email, or WhatsApp. DNA Labs India also provides raw data files (FASTQ and VCF) along with the report for full transparency.
What is the cost of the UPD chr. 6 Gene 6q24 NGS Genetic Test at DNA Labs India?
The cost of the UPD chr. 6 Gene 6q24-related Transient Neonatal Diabetes Mellitus Type 1 NGS Genetic Test at DNA Labs India is Rs 20,000 (INR). This is a special discounted price applicable across India. The cost includes sample collection (free home collection available), the NGS genetic test, clinical test report, raw data files (FASTQ and VCF), and genetic counseling support.
Is fasting required before this genetic test?
No, fasting is not required for this genetic test. Since the test analyzes DNA from blood cells rather than measuring blood glucose or other metabolic markers, the sample can be collected at any time of the day without any dietary restrictions.
Can 6q24-related TNDM Type 1 be treated?
The diabetes associated with TNDM Type 1 often resolves spontaneously by approximately 18 months of age. During the neonatal period, treatment typically involves insulin therapy to manage hyperglycemia. However, research shows that approximately 50% of patients experience a relapse of diabetes during adolescence or early adulthood, sometimes progressing to permanent diabetes mellitus. Long-term monitoring, regular endocrine follow-up, and an individualized management plan are essential for optimal outcomes.
Who should get this genetic test?
This test is recommended for: (1) neonates diagnosed with diabetes within the first six months of life; (2) children or adults with a history of transient neonatal diabetes; (3) individuals with intrauterine growth restriction (IUGR) and neonatal hyperglycemia; (4) families with a known history of 6q24-related TNDM; and (5) parents planning future pregnancies who have had a child previously diagnosed with neonatal diabetes. A clinical geneticist or endocrinologist can help determine if this test is appropriate.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is strongly recommended both before and after testing. Pre-test counseling helps families understand the purpose, implications, benefits, and limitations of the test, and allows the geneticist to draw a detailed pedigree chart of family members affected with 6q24-related TNDM. Post-test counseling is essential for interpreting results, discussing treatment options, recurrence risks for future pregnancies, and long-term management planning. DNA Labs India provides genetic counseling support as part of the test package.
Does DNA Labs India provide raw genetic data files with the test report?
Yes. DNA Labs India is uniquely transparent and provides raw data files including FASTQ files (raw sequencing data) and VCF files (Variant Call Format) alongside the conclusive clinical test report. This allows patients and their treating physicians or geneticists to independently verify findings, perform secondary analysis if needed, and facilitates future re-analysis as new gene-disease associations are discovered. This level of transparency is currently unmatched by other laboratories in India.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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

Your Data Privacy

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.