PQBP1 Gene Renpenning syndrome NGS Genetic Test
Short Name: PQBP1 Renpenning Syndrome Test
Also known as: PQBP1 Gene Sequencing Test, Renpenning Syndrome Genetic Test, PQBP1 Mutation Analysis, X-Linked Intellectual Disability PQBP1 Test, Renpenning Syndrome NGS Panel
PQBP1 Gene Renpenning syndrome 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PQBP1 Gene Renpenning Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PQBP1 gene that cause Renpenning syndrome. This test is used for confirmatory diagnosis in clinically suspected cases, carrier detection in at-risk female family members, family planning and reproductive counseling, and prenatal or preimplantation genetic testing in confirmed carrier families.
- Test Code
- 1806
- ICD Code
- Q87.8
- 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
A genetic counseling session is recommended prior to sample collection. The patient's clinical history and a detailed three-generation family pedigree should be documented. No fasting is required. Inform the laboratory of any recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A 3-5 mL venous blood sample is collected in an EDTA (lavender-top) vacutainer under aseptic conditions. Alternatively, one drop of blood can be spotted on an FTA card. The sample is labeled with patient details and transported at ambient room temperature.
Report Delivery
The sample is processed in the genetics laboratory. DNA is extracted and subjected to NGS sequencing of the PQBP1 gene. Bioinformatics analysis is performed to identify and classify variants. A detailed clinical report is generated with interpretation and recommendations.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PQBP1 Gene Renpenning Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PQBP1 gene that cause Renpenning syndrome. This test is used for confirmatory diagnosis in clinically suspected cases, carrier detection in at-risk female family members, family planning and reproductive counseling, and prenatal or preimplantation genetic testing in confirmed carrier families.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer
- Alternatively, one drop of blood on an FTA card is accepted
- Ensure proper labeling with patient name, date of birth, and unique ID
- Transport at ambient room temperature (15-30°C)
- Avoid hemolysis by using a suitable gauge needle and gentle handling
- Ship sample to the laboratory within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Renpenning syndrome follows an X-linked recessive inheritance pattern, meaning carrier mothers have a 50% chance of passing the mutated PQBP1 gene to each child. Males inheriting the mutation are typically affected, while females may be carriers. Genetic testing of at-risk family members is strongly recommended. Early identification through NGS testing allows families to access appropriate developmental support, speech therapy, and educational interventions at the earliest possible stage. A detailed three-generation pedigree is essential for accurate risk assessment and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Improperly labeled or unlabeled samples
- Samples collected in incorrect anticoagulant (non-EDTA tubes)
- Samples received beyond the acceptable stability window
- Samples with visible contamination
Understanding Your Results
A pathogenic or likely pathogenic mutation in the PQBP1 gene was identified, confirming a molecular diagnosis of Renpenning syndrome. Genetic counseling is recommended to discuss inheritance pattern, recurrence risks, and family planning options.
Result type: Positive – Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the PQBP1 gene. This result does not completely exclude a genetic basis for the patient's symptoms. Clinical correlation and consideration of additional genetic testing are advised.
Result type: Negative – No Pathogenic Variant Detected
A genetic variant was detected in the PQBP1 gene, but current evidence is insufficient to classify it as pathogenic or benign. Family studies and further clinical evaluation may be necessary. Genetic counseling is recommended.
Result type: Variant of Uncertain Significance (VUS)
A heterozygous pathogenic variant in the PQBP1 gene was detected, indicating carrier status. Carrier females have a 50% chance of passing the mutation to each offspring. Genetic counseling and reproductive planning options should be discussed.
Result type: Carrier Detected (Female)
Consult your doctor or a clinical geneticist if you or your child exhibit signs of intellectual disability, microcephaly, short stature, speech delay, or craniofacial abnormalities suggestive of Renpenning syndrome. Also seek genetic counseling if there is a family history of X-linked intellectual disability or if a known PQBP1 mutation has been identified in a family member.
Limitations
- ⚠This test specifically targets the PQBP1 gene and does not screen for mutations in other genes associated with intellectual disability
- ⚠Deep intronic mutations and large genomic rearrangements beyond the detection capability of NGS may not be identified
- ⚠Variants of uncertain significance (VUS) may be detected and may require further family studies for classification
- ⚠Results should be interpreted in conjunction with clinical findings and family history by a qualified geneticist
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Extremely rare risk of infection at the puncture site
- ●Possible detection of variants of uncertain significance (VUS) that may cause anxiety
- ●Emotional impact of a positive diagnosis requiring genetic counseling support
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Recent blood transfusion within the last 30 days may affect results
- ●Contamination during sample collection or transport
- ●Hemolyzed or clotted blood samples
Compare With Similar Tests
| Test | PQBP1 Gene Renpenning syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray Analysis (CMA) | X-Linked Intellectual Disability Panel |
|---|---|---|---|---|
| Comparison | PQBP1 Gene Renpenning syndrome NGS Genetic Test | WES analyzes all protein-coding genes and may identify mutations beyond PQBP1, useful when clinical features overlap multiple genetic syndromes. | CMA detects large chromosomal deletions or duplications but does not identify single nucleotide variants in the PQBP1 gene. | A multi-gene panel that screens several genes associated with X-linked intellectual disability, including PQBP1, providing broader differential diagnosis. |
Frequently Asked Questions
What is Renpenning syndrome?
What causes Renpenning syndrome?
Who should get the PQBP1 Gene Renpenning Syndrome NGS Genetic Test?
How is the PQBP1 Gene NGS Genetic Test performed?
What sample type is required for this genetic test?
How long does it take to receive the test results?
What is the cost of the PQBP1 Gene Renpenning Syndrome NGS Genetic Test?
Is home sample collection available for this test?
Can this test identify female carriers of Renpenning syndrome?
What do the test results mean if a variant of uncertain significance (VUS) is found?
Is genetic counseling recommended before and after this test?
Why does DNA Labs India share Raw Data, FASTQ, and VCF files?
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