Skip to content
Use your HSA or FSA funds

Condition report · Metabolic

Niemann-Pick Disease Types A and B

An inherited lysosomal storage disease caused by SMPD1 variants, ranging from the severe infantile neurological form (type A) to the chronic visceral form (type B). Niemann-Pick disease type C is a different condition with its own report.

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 3 conditions we analyse

Acid sphingomyelinase deficiency, other forms

Autosomal recessive

Includes the intermediate chronic neurovisceral form, with features between types A and B.

Genes analysed

Specific forms also covered

  • Niemann-Pick disease type A (infantile neurovisceral ASMD)

    Autosomal recessive

    Enlarged liver and spleen in infancy with feeding problems and rapid neurological decline, caused by near-complete loss of acid sphingomyelinase.

    SMPD1

  • Niemann-Pick disease type B (chronic visceral ASMD)

    Autosomal recessive

    Enlarged liver and spleen, low platelets, abnormal blood lipids and interstitial lung disease beginning in childhood or adulthood, usually without brain involvement.

    SMPD1

Includes 2 related subtypes ↓
  • Niemann-Pick disease type A
  • Niemann-Pick disease type B
MONDO:0100464MedGen 1800807

Other metabolic 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