XRCC4 Gene Short stature, microcephaly, and endocrine dysfunction NGS Genetic Test
Short Name: XRCC4 NGS Genetic Test
Also known as: XRCC4 Gene Sequencing, XRCC4 Mutation Analysis, Short Stature Microcephaly Endocrine Dysfunction Panel
XRCC4 Gene Short stature, microcephaly, and endocrine dysfunction 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 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the XRCC4 gene that may be responsible for clinical features such as short stature, microcephaly, endocrine dysfunction, and immunodeficiency. It aids in confirming a diagnosis, enabling early intervention, and providing information for genetic counseling and family planning.
- Test Code
- 5926
- 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
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended before the test to discuss the implications.
Method: Venipuncture or Finger prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a finger prick is performed.
Report Delivery
No specific aftercare required. The sample is sent to the laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the XRCC4 gene that may be responsible for clinical features such as short stature, microcephaly, endocrine dysfunction, and immunodeficiency. It aids in confirming a diagnosis, enabling early intervention, and providing information for genetic counseling and family planning.
How to Prepare
- For blood sample: Use EDTA vacutainer, fill to the indicated mark.
- For FTA card: Apply one drop of blood onto the card, allow to air dry.
- Label the sample with patient's name and date of birth.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"XRCC4 mutations are rare but clinically significant. Early genetic diagnosis can guide management of growth failure, microcephaly, and endocrine complications. This NGS test provides comprehensive analysis of the coding region."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of XRCC4-related syndrome. Genetic counseling is recommended for family members.
Negative (No pathogenic variant detected)
No mutation found in the XRCC4 gene. Other genetic or non-genetic causes should be considered.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further testing or family studies may be needed.
If you or your child has symptoms such as short stature, microcephaly, endocrine dysfunction, or recurrent infections, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance may be reported
- ⚠Not a whole genome sequencing test
- ⚠Does not assess other genes associated with similar phenotypes
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample
- ●Insufficient DNA quantity
- ●Presence of maternal cell contamination (if prenatal)
- ●Recent blood transfusion (may dilute DNA)
Compare With Similar Tests
| Test | XRCC4 Gene Short stature, microcephaly, and endocrine dysfunction NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray | Targeted Gene Panel |
|---|---|---|---|---|
| Comparison | XRCC4 Gene Short stature, microcephaly, and endocrine dysfunction NGS Genetic Test | WES covers all coding regions of all genes, while this test focuses only on XRCC4. WES is more comprehensive but costlier. | CMA detects copy number variations, not single nucleotide variants. It may miss point mutations in XRCC4. | A panel may include multiple genes related to short stature and microcephaly, whereas this test is single-gene. |
Frequently Asked Questions
What is the XRCC4 gene?
What symptoms are associated with XRCC4 mutations?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
What does a negative result mean?
Are there any risks associated with the test?
Is home sample collection available?
Will insurance cover this test?
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