You searched for: "ataxia"

/sandbox/ataxia-algorithm 10/26/2015 11:15:39 AM
This test includes 2 genes sequenced for oculomotor apraxia including APTX and SETX.
/view-full-catalog/o/oculomotor-apraxia-ataxia-advanced-sequencing-eval 9/17/2015 11:02:40 AM
This test includes FXN repeat expansion test, 18 genes sequenced, and ATM deletion test that identifies genes associated with autosomal recessive ataxias, including Friedreich ataxia. Smaller panels of its components are also available.
/view-full-catalog/a/ataxia,-complete-recessive-evaluation 9/8/2015 3:44:30 PM
This test includes 11 repeat expansion tests, 33 genes sequenced, and ATM deletion test that identifies mutations and repeat expansions associated with all types of hereditary ataxias. This test may be useful for suspected hereditary ataxia with unavailable or inconclusive f...
/view-full-catalog/a/ataxia,-comprehensive-evaluation 9/10/2015 11:39:06 AM
Detection of sequence variants of FXN Typical Presentation: Children and Adults: Ataxia, dysarthria, muscle weakness, spasticity in the lower limbs, areflexia, cardiomyopathy, diabetes mellitus Indications for testing: Clinical features consistent with those of Friedre...
/view-full-catalog/f/friedreich-s-ataxia-dna-sequencing-analysis 3/30/2015 4:30:17 PM
This test includes sequencing of the following genes CACNA1A, SLC1A3, KCNA1, and CACNB4 . This test covers the most common causes for episodic ataxia, which is a variable condition characterized by intermittent attacks of ataxia and vertigo.
/view-full-catalog/e/episodic-ataxia-evaluation 9/14/2015 8:36:58 PM
This test includes 10 repeat expansion tests and 16 genes sequenced that identifies mutations and repeat expansions associated with autosomal dominant forms of ataxia. Smaller panels of its components are also available.
/view-full-catalog/a/ataxia,-complete-dominant-evaluation 9/8/2015 2:29:06 PM
Detection of mutations to DRPLA , SCA1 , SCA2 , SCA3 , SCA5 , SCA6 , SCA7 , SCA8 , SCA10 , SCA12 , SCA13 , SCA14 , SCA17 , SCA28 , FXN , APTX , POLG1 , SIL1 , TTPA , SETX Typical Presentation: Children and Adults: Ataxia, poor coordination of hand, spee...
/view-full-catalog/c/complete-ataxia-evaluation 3/30/2015 4:38:58 PM
Detection of mutations to DRPLA , SCA1 , SCA2 , SCA3 , SCA5 , SCA6 , SCA7 , SCA8 , SCA10 , SCA12 , SCA13 , SCA14 , SCA17 , SCA28 Typical Presentation: Children and Adults: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady...
/view-full-catalog/a/autosomal-dominant-ataxia-evaluation 3/30/2015 4:39:02 PM
Detection of mutations to APTX , SETX , SIL1 , POLG1 , TTPA , FXN Typical Presentation: Children and Adults: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait, dysarthria, muscle weakness, dystonia, spasticity in the lower l...
/view-full-catalog/a/autosomal-recessive-ataxia-evaluation 3/30/2015 4:38:55 PM