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Test Details
Expand Genes
TH
- Confirmation of a clinical diagnosis
- Identification of at-risk family members
Ordering
TA78
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81406x1
No
Yes
- 348.3 Encephalopathy, not elsewhere classified
- 780.6 Fever and other physiologic disturbances of temperature regulation
- 251.2 Hypoglycemia, unspecified Hypoglycemia: NOS reactive spontaneous
- 374.3 Ptosis of eyelid
- 781 Symptoms involving nervous and musculoskeletal systems Excludes: depression NOS (311) disorders specifically relating to: back (724.0-724.9) hearing (388.0-389.9) joint (718.0-719.9) limb (729.0-729.9) neck (723.0-723.9) vision (368.0-369.9) pain in limb (729.5)
For price inquiries please email zebras@genedx.com
**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.
**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.
References
- HGMD Professional 2010.3
- Willemsen et al., (2010) Brain 133:1810-1822
- Pons R et al., (2010) Mov Disord 25(8): 1086-90
- Zafeiriou et al., (2009) Mol Genet Metab 97:18-20
- Clot et al., (2009) Brain 132: 1753- 1763
- Swoboda (2008) TH Deficiency http://www.genetests.org
- Verbeek et al., (2007) Ann Neurol 62:422-426
- Ribases et al., (2007) Mol Genet Metab 92:274-277
- Schiller et al., (2004) Neurology 63:1524-1526
- Furukawa et al., (2001) Neurology 56:260-263
- Janssen et al., (2000) Ann Hum Genet 64:375-382
- Wevers et al., (1999) J Inher Metab Dis 22:364- 373
- Van den Heuvel et al., (1998) Hum Genet 102:644-6