Joubert Syndrome Type 2 (TMEM216), 1 Variant
Also known as: TMEM216
Use
This test is used for carrier screening or diagnostic testing of Joubert syndrome type 2, which is particularly relevant for individuals of Ashkenazi Jewish descent. Joubert syndrome type 2 is characterized by a 'molar tooth sign' cerebellar and brain stem malformation, hypotonia, and developmental delay. Clinical manifestations and severity vary.
Special Instructions
Counseling and informed consent are recommended before undergoing genetic testing. Consent forms are available online and are required for testing patients from New York.
Limitations
The test specifically detects the p.R73L (c.218G>T) pathogenic variant in the TMEM216 gene. Variants other than p.R73L will not be detected. Diagnostic errors can occur due to rare sequence variations.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |
Other tests from different labs that may be relevant