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
Not provided.
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
TMEM216
Gene
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