DDHD2 Gene SPG54 NGS Genetic Test
Short Name: DDHD2 SPG54 NGS Test
Also known as: SPG54 Genetic Test, DDHD2 Gene Sequencing, Hereditary Spastic Paraplegia Type 54 Test, DDHD2 Mutation Analysis, SPG54 NGS Panel Test
DDHD2 Gene SPG54 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 DDHD2 Gene SPG54 NGS Genetic Test is to confirm or rule out a molecular diagnosis of Hereditary Spastic Paraplegia Type 54 by detecting causative mutations in the DDHD2 gene. This test aids clinicians in establishing a definitive diagnosis, differentiating SPG54 from other subtypes of HSP and related neurological conditions, facilitating genetic counselling for affected families, supporting informed reproductive decision-making, and guiding appropriate clinical management and long-term care planning.
- Test Code
- 1823
- CPT Code
- 81406
- ICD Code
- G11.4
- 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
No special preparation such as fasting is required. A genetic counselling session is recommended before sample collection to draw a pedigree chart of family members affected with DDHD2 Gene SPG54 disease. Provide complete clinical history and family history to the genetic counsellor.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood sample of 3-5 mL is collected in an EDTA (lavender top) tube. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The procedure is quick and involves minimal discomfort similar to a routine blood draw.
Report Delivery
After blood collection, mild bruising or soreness at the puncture site may occur. No special post-collection care is needed. Results are typically available within 3 to 4 weeks and can be accessed through the online portal, email, or WhatsApp.
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 DDHD2 Gene SPG54 NGS Genetic Test is to confirm or rule out a molecular diagnosis of Hereditary Spastic Paraplegia Type 54 by detecting causative mutations in the DDHD2 gene. This test aids clinicians in establishing a definitive diagnosis, differentiating SPG54 from other subtypes of HSP and related neurological conditions, facilitating genetic counselling for affected families, supporting informed reproductive decision-making, and guiding appropriate clinical management and long-term care planning.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) tube
- Alternatively, extracted DNA or one drop of blood on FTA card is acceptable
- Label the sample clearly with patient name, date of birth, and unique ID
- Store and transport the sample at ambient room temperature
- Complete the genetic test requisition form with clinical history and family pedigree details
- Ensure informed consent is signed by the patient or legal guardian
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"SPG54 is a rare autosomal recessive form of hereditary spastic paraplegia caused by biallelic mutations in the DDHD2 gene. Early genetic confirmation through NGS-based testing is critical for accurate diagnosis, genetic counselling, and guiding management decisions. Families with a history of progressive spastic paraplegia should consider this test for definitive molecular diagnosis and informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labeling or identification
- Clotted or hemolyzed blood sample
- Insufficient sample volume
- Sample collected in incorrect tube type (e.g., non-EDTA anticoagulant)
- Sample received without signed informed consent or requisition form
- Severely degraded DNA upon quality assessment
Understanding Your Results
Pathogenic or Likely Pathogenic variant(s) detected (Homozygous or Compound Heterozygous)
Confirms a molecular diagnosis of SPG54. Biallelic pathogenic variants in DDHD2 are consistent with autosomal recessive Hereditary Spastic Paraplegia Type 54. Genetic counselling is strongly recommended for the patient and family members.
Variant of Uncertain Significance (VUS) detected
A variant was identified that cannot be definitively classified as pathogenic or benign with current evidence. Clinical correlation, segregation analysis in family members, and periodic re-evaluation are recommended.
No pathogenic variants detected
No disease-causing mutations were identified in the DDHD2 gene. This result does not exclude hereditary spastic paraplegia caused by mutations in other genes. Clinical correlation and consideration of additional genetic testing may be warranted.
Consult a neurologist or clinical geneticist if you or your child experiences progressive stiffness or weakness in the legs, difficulty walking, abnormal gait, bladder or bowel dysfunction, or numbness in the lower limbs — particularly if there is a family history of hereditary spastic paraplegia. Early consultation is recommended for accurate diagnosis and management planning.
Limitations
- ⚠This test does not detect large copy number variations (CNVs) or chromosomal rearrangements unless specifically analyzed
- ⚠Deep intronic variants and regulatory region mutations may not be covered
- ⚠Variants of Uncertain Significance (VUS) may be identified and require clinical correlation and family studies
- ⚠This test does not screen for mutations in other HSP-associated genes unless ordered as part of a broader panel
- ⚠A negative result does not completely exclude hereditary spastic paraplegia if caused by mutations in other genes
Risks & Considerations
- ●Minimal risk associated with blood draw: mild pain, bruising, or swelling at the puncture site
- ●Psychological impact of genetic results, including anxiety or stress upon receiving a positive diagnosis
- ●Potential identification of Variants of Uncertain Significance (VUS) which may cause uncertainty
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Recent blood transfusion within the past 4 weeks may impact results
- ●Sample contamination during collection or transport
- ●Presence of mosaicism may not be reliably detected
Compare With Similar Tests
| Test | DDHD2 Gene SPG54 NGS Genetic Test | Spastic Paraplegia Gene Panel (Multi-Gene) | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | DDHD2 Gene SPG54 NGS Genetic Test | The SPG54-specific DDHD2 test targets only the DDHD2 gene, whereas a multi-gene HSP panel screens for mutations across multiple HSP-associated genes simultaneously. The panel is recommended when the specific subtype is unknown. | WES analyzes the entire coding region of all genes and may identify variants in DDHD2 as well as in other genes. WES is broader in scope but more costly and may yield incidental findings. The DDHD2-specific test is more targeted and cost-effective for suspected SPG54. | CMA detects large copy number variations and chromosomal abnormalities but does not identify point mutations or small indels in the DDHD2 gene. NGS-based DDHD2 testing is required for sequence-level variant detection. |
Frequently Asked Questions
What is the DDHD2 Gene SPG54 NGS Genetic Test?
What is SPG54 and how does it affect the body?
Who should consider getting the DDHD2 Gene SPG54 Genetic Test?
How much does the DDHD2 Gene SPG54 NGS Genetic Test cost in India?
What sample type is required for the DDHD2 Gene SPG54 test?
How long does it take to get the DDHD2 Gene SPG54 test results?
What does a positive DDHD2 Gene SPG54 test result mean?
What does a negative DDHD2 Gene SPG54 test result mean?
Is the DDHD2 Gene SPG54 test available for home sample collection?
Is genetic counselling required before taking the DDHD2 Gene SPG54 test?
Can the DDHD2 Gene SPG54 test be used for prenatal or carrier testing?
What is the difference between the DDHD2-specific test and an HSP gene panel?
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