Cerebrospinal Fluid (CSF) DNA Analysis for Genetic Testing (Fragile X or Other Single-Gene Mutations)
This test checks for specific genetic mutations in DNA extracted from your cerebrospinal fluid (CSF), often used to diagnose conditions like Fragile X syndrome or other inherited genetic disorders.
["Helps identify rare genetic conditions that may affect brain development or function."]
Key facts at a glance
- LOINC
- 106583-8
- Short code
- CAURISPCR
- Synonyms
- C auris DNA Fld Ql NAA+n-prb
- Category
- chemistry
- Sample
- serum
- Container
- Sterile, leak-proof, screw-cap container or transport tube compatible with molecular testing. For serum: serum separator tube (SST) or red-top tube without anticoagulant.
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 0–120 years
- Method
- non-probe-amp-tar
- CPT
- 87798
- SNOMED
- 122450003
- Specimen volume
- 1-2 mL of serum; minimum 0.5 mL accepted for testing.
- Stability
- Room temperature: 24 hours; Refrigerated (2-8°C): 7 days; Frozen (-70°C or below): 30 days. Avoid repeated freeze-thaw cycles.
- Hemolysis max
- 2
- Lipemia max
- 3
- Icterus max
- 2
- TAT
- 24–72 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you or your child show signs of developmental delays, intellectual disabilities, autism spectrum disorder, or other neurological concerns that could be linked to a genetic mutation. It may also be used in research or prenatal settings for specific genetic screening.
Sample Collection and Preparation
A small amount of cerebrospinal fluid is collected through a procedure called a lumbar puncture (spinal tap). The fluid is then processed to extract DNA for analysis. This is typically done in a clinical laboratory under sterile conditions.
What to Expect Before the Test
You may need to fast or avoid certain medications for a short period before the procedure, depending on your healthcare provider’s instructions. Inform your provider about any medications you’re taking, including over-the-counter drugs or supplements.
What to Expect During the Test
The lumbar puncture involves inserting a needle into your lower back to collect CSF. You may feel pressure or discomfort, but it usually doesn’t cause significant pain. You’ll lie on your side with your knees bent, and the procedure takes about 15–30 minutes.
Reference range
Negative (Candida auris DNA not detected). Reference range applies to qualitative detection only.N/A
No special patient preparation required. Specimen should be collected prior to initiation of antifungal therapy when possible, as antifungal treatment may reduce pathogen detection sensitivity.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Positive results for specific genetic mutations can confirm a diagnosis of Fragile X syndrome or other inherited conditions, guiding treatment plans, genetic counseling, and family planning. Negative results mean no detectable mutations for the tested genes in this sample, but further testing may still be needed if symptoms persist.
Short name
CSF DNA Fragile X or Gene Mutation Screen
Frequently asked questions
How Long Does It Take to Get Results?
What If My Results Are Abnormal?
Can This Test Be Done During Pregnancy?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 15, 2026. · Read our editorial policy