New Hereditary Neuropathy testing Services from Athena Diagnostics

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New Hereditary Neuropathy testing Services from Athena Diagnostics

Athena Diagnostics is proud to announce the clinical availability of

three new testing services starting October 31, 2003:

· GDAP1 DNA Sequencing Test

· Entrapment Neuropathy Evaluation

· Amyloidosis Evaluation

Mutations in the GDAP1 (Ganglioside-Induced Differentiation-Associated

Protein 1) gene account for a substantial proportion of autosomal

recessive Charcot-Marie-Tooth disease (CMT),1 and cause both axonal loss

and demyelination. With the availability of GDAP1 DNA sequencing, Athena

can help you diagnose an even greater number of your patients

with inherited neuropathy. Mutations in GDAP1 are not specific to any

race or gender and can cause low to near-normal nerve conduction

velocities (NCV).2 Patients have been reported to present with both >

classic CMT features such as pes cavus and hand atrophy, as well as

atypical features such as vocal cord paresis.3 In some cases, the

neuropathy was classified as an intermediate phenotype between CMT1 and

CMT2, as the NCVs were between 25 m/s and 35 m/s.2,4

We encourage you to discuss GDAP1 with your neuropathy patients whose

diagnoses have not yet been confirmed. Discovery of a homozygous or

heterozygous GDAP1 mutation in your patient is likely to provide

valuable prognostic as well as inheritance information.1-4 Please note

that we continue to offer all the individual assays (PMP22

duplication/deletion, sequencing of PMP22, Connexin32/GJB1, EGR2, MPZ,

NFL, Periaxin and GDAP1) in addition to the clinically relevant panels.

The Entrapment Neuropathy Evaluation includes PMP22 duplication and

deletion, PMP22 sequencing and Transthyretin, and may assist you in

diagnosing some of your patients with sporadic as well as inherited

focal or multifocal compression neuropathies.5-8

The Amyloidosis Evaluation includes Transthyretin, and may help in the

diagnosis of several amyloidosis-related syndromes such as familial

amyloidotic polyneuropathy (FAP), autonomic insufficiency,

cardiomyopathy, and gastrointestinal abnormalities.9

If you have any questions, please call us at 800-394-4493. You can also

email us at info@...

New testing services available as of October 31, 2003:

· Complete CMT Evaluation, #290 (now with GDAP1)

· Dominant CMT Evaluation, #250

· Partial CMT Evaluation, Type 1 Only, #291 (now with GDAP1)

· Partial CMT Evaluation, Type 2 Only, #292 (now with GDAP1)

· Partial CMT Evaluation, Type 4 Only, #294 (now with GDAP1)

· GDAP1 DNA Sequencing Test, #221

· Entrapment Neuropathy Evaluation, #296

· Amyloidosis Evaluation, #235