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2013909
Joubert Syndrome Type 2 (TMEM216), 1 Variant
TMEM216
Ordering Recommendation
Carrier screening or diagnostic testing for Joubert syndrome type 2 for individuals of Ashkenazi Jewish descent.
New York DOH Approval Status
This test is New York state approved.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Methodology
Polymerase Chain Reaction (PCR)/Fluorescence Monitoring
Performed
Varies
Reported
5-10 days
Reference Interval
By report
Interpretive Data
Refer to report
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Compliance Category
Laboratory Developed Test (LDT)
Note
Hotline History
N/A
CPT Codes
81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2013910 | Joubert Syndrome Type 2, Specimen | |
| 2013911 | Joubert Syndrome Type 2, Allele 1 | |
| 2013912 | Joubert Syndrome Type 2, Allele 2 | |
| 2013913 | Joubert Syndrome Type 2, Interp |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Joubert Syndrome Type 2 (TMEM216), 1 Variant
