Amyloidosis

Key testing

• TTRZ | TTR Gene, Full Gene Analysis, Varies
  • Establishes molecular diagnosis for patients with amyloidosis.
  • Identifies variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members.

---

brachial plexus

Key testing

• SEP9Z | SEPTIN9 Gene, Full Gene Analysis, Varies
  • Establishes molecular diagnosis for patients with hereditary neuralgic amyotrophy.
  • Identifies variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members.

---

Charcot-Marie-Tooth disease (CMT)

Key testing

• PMPDD | PMP22 Gene, Large Deletion/Duplication Analysis, Varies
  • Assesses for large deletions and duplications in the PMP22 gene.
• SORD | Sorbitol and Xylitol, Quantitative, Random, Urine
  • The preferred genetic test for assessing sorbitol dehydrogenase (SORD) deficiency-related hereditary peripheral neuropathy using a urine sample.
  • Measures levels of two sugar alcohols — sorbitol and xylitol — that are known to be elevated in people with SORD deficiency.
  • Mayo Clinic’s first clinically available biochemical assay diagnosing SORD deficiency through urine.

---

distal myopathy and peripheral neuropathy

Key testing

• DWPAN | Comprehensive Distal Weakness Gene Panel, Varies
  • Evaluates 211 genes associated with distal weakness and deletion and duplication analysis for SMN1 and SMN2.

---

Sensory and motor testing

Key testing

• IMSNP | Inherited Motor and Sensory Neuropathy Gene Panel, Varies
  • Evaluates 87 genes associated with hereditary motor and sensory neuropathy.
• IMNP | Inherited Motor Neuropathy Gene Panel, Varies
  • Evaluates 24 genes associated with hereditary motor neuropathy and deletion and duplication analysis for SMN1 and SMN2.
• ISPP | Inherited Spastic Paraplegia Gene Panel, Varies
  • Evaluates 128 genes associated with hereditary spastic paraplegia.
• ISNP | Inherited Sensory Neuropathy Gene Panel, Varies
  • Evaluates 23 genes associated with hereditary sensory neuropathy.