Skip to content
Use your HSA or FSA funds

Condition report · Neurological

Neuroacanthocytosis

Rare inherited conditions that can resemble Huntington disease, causing involuntary movements (chorea), behavioural and psychiatric changes and cognitive decline. They include chorea-acanthocytosis, McLeod syndrome and Huntington disease-like 2.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 2 conditions we analyse

Neuroacanthocytosis

A group of disorders with abnormally shaped red blood cells and neurodegeneration, including VPS13A-related chorea-acanthocytosis (recessive) and XK-related McLeod syndrome (X-linked).

What a diagnosis changes

Neurological and psychiatric care; people with McLeod syndrome need Kell-compatible blood if transfused.

Genes analysed

Also known as

neuroacanthocytosis syndrome

Includes 2 related subtypes ↓
  • VPS13A-related neurodegenerative disease
  • XK-related neurodegenerative disease
MONDO:0016987Orphanet 263440

Huntington Disease-Like 2

Autosomal dominant

A Huntington disease-like disorder caused by a CTG/CAG repeat expansion in JPH3, reported mainly in people of African ancestry.

Genes analysed

Also known as

HDL2; Huntington disease-like type 2

MONDO:0011671OMIM 606438Orphanet 98934MedGen 341120

Limitations

  • Huntington disease-like 2 is caused by a repeat expansion in JPH3, and VPS13A has recurrent exon deletions. Repeat expansions and copy number variants are not reliably detected by our standard whole genome small-variant analysis, so a negative result does not rule out these conditions. Learn more

Other neurological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium