| Test code: | 795 |
| Type of disorder: | Neurodevelopmental Disorders |
| Disease(s) tested for: | Joubert Syndrome and Related Disorders |
| Genes Included: | TMEM216, TMEM67, AHI1, CEP290, CC2D2A, NPHP1, |
| Tests included: | AHI1 DNA Sequencing Test (Joubert Syndrome) CC2D2A DNA Sequencing Test (Joubert Syndrome) CEP290 DNA Sequencing Test (Joubert Syndrome) NPHP1 Deletion Test (Joubert Syndrome) TMEM216 DNA Sequencing (Joubert Syndrome) TMEM67 DNA Sequencing Test (Joubert Syndrome) |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects point mutations in TMEM216, TMEM67, AHI1, CEP290, and CC2D2A; Detects presence or absence of homozygous deletions in the NPHP1 gene Typical Presentation: Hypotonia, abnormal ocular movements, neonatal respiratory difficulties, mental retardation, hypoplasia of the cerebellar vermis, malformation of the brainstem. Indications for testing: Differential Diagnosis for Joubert Syndrome and Related Disorders |
| Methodology: | Sanger Sequencing, Polymerase Chain Reaction (PCR) |
| Reference Range: | No mutation detected, no homozygous deletion detected |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
| CPT: | 81405(1), 81407(2), 81408(1), 81479(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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