Pitt-Hopkins Syndrome (TCF4) Sequencing
| Disorder | Pitt-Hopkins syndrome | |
| Gene Name | TCF4 | |
| Clinical info | Pitt-Hopkins syndrome is characterized by intellectual disability, a wide mouth, intermittent hyperventilation and apnea. Other features may include thick lips, prominent nose and clubbing of the fingers and toes. Haploinsufficiency of transcription factor 4 (TCF4), located at 18q21.1, has been identified as the causative factor in Pitt-Hopkins syndrome. | |
| Indications | Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis. | |
| Associated Tests | TCF4 sequencing is also part of the 2nd Tier Rett/Angelman syndrome panel | |
| Specimen Requirements | 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml | |
| Transport | The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery. | |
| Turnaround time | 6 weeks | |
| Prenatal testing | Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen. | |
| CPT Codes | Unknown mutation 81479 Known mutation 81479 |
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| Cost | $1800 for sequencing $350 for known mutation |
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| Contact | For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411. | |
Form Needed
Download molecular-lab-request-form.pdf
Have Questions Need Support?
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Kellie King, MS, CGC
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.