Genetic analysis for specific CDT (Cystinotic Disease Transcriptome) variants using qualitative probe-based next-generation sequencing
This test checks for genetic changes linked to a rare inherited disorder called cystinosis, using a specialized DNA analysis method.
["This test helps diagnose or monitor genetic conditions affecting cystine storage in cells."]
Key facts at a glance
- LOINC
- 53943-7
- Short code
- CDTG
- Synonyms
- cdt gene Spec Ql NAA+probe
- Category
- chemistry
- Sample
- serum
- Container
- Sterile, leak-proof container (preferred) or serum separator tube (SST) for serum specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- probe-amp-tar
- CPT
- 87798
- SNOMED
- 39823008
- Specimen volume
- 1-2 mL serum
- Stability
- Refrigerated (2-8°C): 7 days; Frozen (-70°C or below): 30 days; Room temperature: 24 hours
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 24–72 hours
- Order
- routine
What This Test Measures
The test detects specific genetic mutations (variants) associated with cystinosis, a condition where the body cannot properly break down a protein called cystine. These mutations are identified through a targeted genetic probe analysis of your DNA.
Why It’s Done
Your healthcare provider may recommend this test if you have symptoms of cystinosis (e.g., kidney problems, fatigue, or eye issues) or if you have a family history of the disorder. It can also be used for prenatal testing or carrier screening in certain situations.
Sample Collection
A blood sample is typically taken from you. The blood is processed to extract DNA, which is then analyzed for the targeted genetic variants using a specialized probe-based method.
How Results Are Used
Results help confirm a diagnosis of cystinosis, guide treatment decisions, or determine if you’re a carrier of the genetic mutation. This information can influence long-term management plans, including dietary or medical interventions.
Reference range
Negative (Target cdt gene not detected)N/A
No special patient preparation required. Specimen should be collected prior to initiation of antimicrobial therapy when clinically feasible.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance
Short name
None
Frequently asked questions
How long will it take to get my results?
What if my test results are abnormal?
Does this test require fasting?
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 16, 2026. · Read our editorial policy