SFXN4 Gene Combined oxidative phosphorylation deficiency type 18 NGS Genetic Test
Short Name: SFXN4 Gene COXPD18 NGS Test
Also known as: SFXN4 Gene Mutation Analysis, COXPD18 Genetic Test, SFXN4 Next Generation Sequencing Test, Combined Oxidative Phosphorylation Deficiency Type 18 DNA Test, SFXN4 Sequencing Test
SFXN4 Gene Combined oxidative phosphorylation deficiency type 18 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatics Pipeline Analysis, ACMG Variant Classification on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of 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 SFXN4 Gene COXPD18 NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the SFXN4 gene responsible for Combined Oxidative Phosphorylation Deficiency Type 18. This test is used for diagnostic confirmation in symptomatic patients, carrier identification in family members, and informed genetic counseling for reproductive planning.
- Test Code
- 1943
- CPT Code
- 81479
- ICD Code
- E88.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatics Pipeline Analysis, ACMG Variant Classification
Sample Collection
A genetic counseling session is strongly recommended prior to testing to discuss the implications of results. Provide detailed clinical history of the patient and draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 18 or related conditions. No fasting is required for this test.
Method: Venipuncture or Finger Prick (FTA Card)
Laboratory Analysis
A trained phlebotomist will collect 3 to 5 mL of venous blood in an EDTA (lavender top) tube. Alternatively, a single drop of blood on an FTA card or pre-extracted DNA may be submitted. The collection process typically takes less than 10 minutes with minimal discomfort.
Report Delivery
The sample is transported to the DNA Labs India laboratory under controlled ambient temperature conditions. The sample undergoes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, variant interpretation, and clinical reporting within 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SFXN4 Gene COXPD18 NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the SFXN4 gene responsible for Combined Oxidative Phosphorylation Deficiency Type 18. This test is used for diagnostic confirmation in symptomatic patients, carrier identification in family members, and informed genetic counseling for reproductive planning.
How to Prepare
- Collect 3 to 5 mL venous blood in an EDTA (lavender top) tube under aseptic conditions
- Alternatively, collect one drop of blood on an FTA card or submit pre-extracted DNA (minimum 1 microgram)
- Label the sample clearly with patient name, date of birth, and unique identification number
- Store blood samples at ambient room temperature and transport within 48 hours of collection
- For extracted DNA, store at -20 degrees Celsius until shipment
- Ensure the requisition form includes complete clinical history and pedigree information
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"COXPD18 is a severe mitochondrial disorder that often presents in infancy with multisystem involvement. Early genetic confirmation through SFXN4 gene analysis using NGS technology is critical for establishing a definitive diagnosis, guiding prognosis discussions with families, informing reproductive planning, and enabling enrollment in emerging therapeutic trials. I recommend this test for any patient presenting with unexplained lactic acidosis, progressive encephalomyopathy, or suspected mitochondrial respiratory chain deficiency where standard biochemical workup is inconclusive."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume (less than 2 mL of whole blood)
- Samples without proper labeling or identification
- Samples collected more than 7 days prior without refrigeration
- Requisition form missing clinical history or patient consent
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected (Biallelic)
Confirms a molecular diagnosis of Combined Oxidative Phosphorylation Deficiency Type 18 (COXPD18). Biallelic pathogenic variants in the SFXN4 gene in a symptomatic individual are consistent with the disease. Genetic counseling and family screening are recommended.
Pathogenic or Likely Pathogenic Variant Detected (Heterozygous Carrier)
The individual is a carrier of one pathogenic SFXN4 variant. Carriers are typically asymptomatic but have a 50 percent chance of passing the variant to offspring. Carrier testing of the partner is recommended for family planning.
Variant of Uncertain Significance (VUS) Detected
A variant of uncertain clinical significance was identified. The result cannot confirm or exclude a diagnosis of COXPD18. Clinical correlation, family segregation studies, and periodic reanalysis as new evidence emerges are recommended.
No Pathogenic Variants Detected
No pathogenic or likely pathogenic variants were identified in the SFXN4 gene. This result makes COXPD18 unlikely as the cause of the patient's symptoms. Alternative diagnoses should be considered and further clinical evaluation may be warranted.
Consult your physician or clinical geneticist if your test reveals pathogenic or likely pathogenic variants in the SFXN4 gene, if a Variant of Uncertain Significance is identified, or if you have a family history of mitochondrial disorders and wish to discuss reproductive options. Early consultation is recommended for infants presenting with unexplained lactic acidosis, muscle weakness, or developmental delays.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic variants outside the targeted regions
- ⚠Mitochondrial DNA mutations are not assessed by this nuclear gene-targeted test
- ⚠Variants of Uncertain Significance (VUS) may be identified and require further clinical correlation
- ⚠This test does not substitute for comprehensive biochemical mitochondrial respiratory chain enzyme assays
- ⚠Mosaicism at low allele frequencies may not be reliably detected
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection at the puncture site
- ●Emotional impact of receiving a diagnosis of a serious genetic condition
- ●Risk of identifying Variants of Uncertain Significance causing anxiety without clear clinical guidance
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect genotyping accuracy
- ●Degraded or insufficient DNA quality from improperly stored samples
- ●Contamination of sample during collection or transport
- ●Hemolyzed blood samples may compromise DNA extraction yields
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Frequently Asked Questions
What is the SFXN4 Gene COXPD18 NGS Genetic Test?
What is Combined Oxidative Phosphorylation Deficiency Type 18 (COXPD18)?
What are the symptoms of COXPD18?
How is COXPD18 inherited?
What sample is required for this test?
How long does it take to get the results of this test?
What does a positive test result mean?
Can this test identify carriers of SFXN4 mutations?
Is genetic counseling recommended before and after this test?
Is there a cure for COXPD18?
What is the cost of the SFXN4 Gene COXPD18 NGS Genetic Test in India?
What files and data does DNA Labs India provide with the test report?
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