RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic Test
Short Name: RPL5 Gene DBA Type 6 NGS Test
Also known as: RPL5 Gene Mutation Test, DBA Type 6 Genetic Test, Diamond-Blackfan Anemia Type 6 DNA Test, RPL5 NGS Sequencing Test, RPL5 Ribosomal Protein Gene Test
RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. 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 RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic Test is to identify pathogenic mutations in the RPL5 gene that cause Diamond-Blackfan Anemia Type 6. This test enables definitive molecular diagnosis, facilitates genotype-phenotype correlation, guides treatment planning, supports genetic counseling for affected families, and allows for carrier detection and prenatal testing in at-risk pregnancies.
- Test Code
- 5582
- CPT Code
- 81479
- ICD Code
- D61.09
- 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 at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation
Sample Collection
A pre-test genetic counseling session is recommended to discuss the clinical indication, implications of results, and to draw a pedigree chart of family members affected with or at risk for Diamond-Blackfan anemia. Clinical history of the patient should be provided to the testing laboratory.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood draw of 3-5 mL into an EDTA tube is performed. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The procedure is similar to a routine blood draw and takes approximately 5-10 minutes.
Report Delivery
Apply pressure to the puncture site for 3-5 minutes. The sample is transported to the laboratory under controlled ambient temperature conditions. No specific post-collection restrictions are required.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic Test is to identify pathogenic mutations in the RPL5 gene that cause Diamond-Blackfan Anemia Type 6. This test enables definitive molecular diagnosis, facilitates genotype-phenotype correlation, guides treatment planning, supports genetic counseling for affected families, and allows for carrier detection and prenatal testing in at-risk pregnancies.
How to Prepare
- Provide complete clinical history and family pedigree information at the time of sample collection
- Blood should be collected in an EDTA (lavender top) tube
- Label the sample clearly with patient name, date of birth, and sample ID
- Store and transport the sample at ambient room temperature (15-30°C)
- Avoid hemolyzed or clotted samples
- If using an FTA card, ensure the blood drop is fully dried before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome that predominantly presents in infancy. Mutations in the RPL5 gene account for a significant subset of DBA cases and are often associated with craniofacial and upper limb anomalies. Early genetic confirmation through NGS testing allows for precise diagnosis, appropriate family counseling, and timely initiation of corticosteroid therapy or transfusion support. I recommend this test for any child presenting with congenital hypoplastic anemia and characteristic physical findings, as well as for carrier testing in families with a known RPL5 mutation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample without proper labeling or identification
- Insufficient sample volume
- Sample received in a leaking or damaged container
- Sample collected in incorrect tube type (e.g., heparin tube instead of EDTA)
Understanding Your Results
Confirms a molecular diagnosis of Diamond-Blackfan Anemia Type 6. Genetic counseling and appropriate clinical management should be initiated.
Action: Consult a hematologist and genetic counselor for treatment planning and family screening.
Strong evidence supports a diagnosis of DBA6. Correlation with clinical findings is recommended.
Action: Consult a hematologist and genetic counselor. Family segregation analysis may be helpful.
The clinical significance of the detected variant cannot be determined at this time. It may or may not be associated with disease.
Action: Clinical correlation is essential. Follow-up testing of family members and periodic reclassification is recommended.
No disease-causing mutation was identified in the RPL5 gene. This does not exclude Diamond-Blackfan anemia, which may be caused by mutations in other genes.
Action: Consider expanded DBA gene panel testing or whole exome sequencing. Clinical follow-up is advised.
The variant is considered unlikely to be disease-causing based on current evidence.
Action: No specific clinical action required for this variant. Continue clinical monitoring as indicated.
Consult a hematologist or genetic specialist if your child presents with unexplained severe anemia in infancy, pale skin, fatigue, failure to thrive, craniofacial abnormalities, or thumb anomalies. If a family member has been diagnosed with DBA or carries an RPL5 mutation, seek genetic counseling for carrier testing and reproductive planning. Early consultation is critical for timely diagnosis and management.
Limitations
- ⚠This test analyzes only the RPL5 gene and does not screen other DBA-associated genes unless a panel is specifically ordered
- ⚠Large genomic rearrangements or copy number variants may not be fully detected by standard NGS sequencing
- ⚠Variants of uncertain significance (VUS) may be identified and may require further evaluation
- ⚠A negative result does not completely exclude Diamond-Blackfan anemia as other gene mutations may be causative
- ⚠This test is not validated for tumor or somatic mutation analysis
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very small risk of infection at the puncture site
- ●Psychological impact of genetic results, particularly if a pathogenic variant or VUS is identified
- ●Potential implications for family members who may also carry the mutation
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing results
- ●Recent blood transfusion within 120 days may interfere with variant detection in blood-derived DNA
- ●Contamination of the sample during collection or transport
- ●Presence of somatic mosaicism may lead to variant allele frequencies below detection thresholds
Compare With Similar Tests
| Test | RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic Test | DBA Multi-Gene Panel (NGS) | Whole Exome Sequencing (WES) | Sanger Sequencing of RPL5 | Chromosomal Microarray Analysis |
|---|---|---|---|---|---|
| Comparison | RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic Test | Analyzes multiple DBA-associated genes simultaneously including RPL5, RPL11, RPL35A, RPS19, and others. Recommended when the specific causative gene is unknown. | Analyzes all protein-coding genes in the genome. Useful when targeted gene testing is negative and a genetic etiology is still suspected. | Traditional sequencing method for confirming specific variants identified by NGS. Lower throughput but considered the gold standard for variant confirmation. | Detects large copy number variants and chromosomal abnormalities. May identify deletions involving the RPL5 locus but does not detect point mutations. |
Frequently Asked Questions
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