Niemann-Pick Disease, Type C

Niemann-Pick Disease Type C (NPC) is a rare lipid storage disorder that is characterized by accumulation of LDL-derived cholesterol in lysosomes. This abnormality leads to progressive neurological deterioration, visceral symptoms and premature death. Neurologic abnormalities gradually develop, including ataxia, spasticity, seizures, dysarthria and dysphagia. Other features presenting later in life may include dystonia and vertical supranuclear gaze palsy, dementia and psychiatric manifestations. Hepatomegaly and/or splenomegaly may or may not be present. The age and severity of onset can vary widely. The biochemical diagnosis can be made on cultured skin fibroblasts by evaluating LDL-derived cholesterol esterification and/or with filipin staining showing intracellular accumulation of cholesterol. Two genes are associated with NPC. Mutations in the NPC1 and NPC2 genes result in similar clinical and biochemical phenotypes but can be distinguished by complementation group. NPC1 represents the major complementation group and is due to mutations in the NPC1 gene whereas NPC2 is caused by mutations in the NPC2/HE1 gene. Mutations in NPC1 are responsible for approximately 95% of Niemann-Pick Type C cases, while approximately 4-5% of patients have mutations in the NPC2/HE1 gene.

Tests Available

Forms and Documents

Test Details

NPC1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing Reflex to Exon Array

Ordering

246
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
* For price inquiries please email zebras@genedx.com

References

  1. Millat et al., (2005) Mol Genet Metab 86:220-232
  2. Park et al., (2003) Hum Mut 22:313
  3. Verot et al., (2007) Clin Genet 71:320-30
  4. Sevin et al., (2007) Brain 130:120-133
  5. Fernandez-Valero et al., (2005) Clin Genet 68 :245-254

Forms and Documents

Test Details

NPC1, NPC2
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

581
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81404x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
* For price inquiries please email zebras@genedx.com

References

  1. Millat et al., (2005) Mol Genet Metab 86:220-232
  2. Park et al., (2003) Hum Mut 22:313
  3. Verot et al., (2007) Clin Genet 71:320-30
  4. Sevin et al., (2007) Brain 130:120-133
  5. Fernandez-Valero et al., (2005) Clin Genet 68 :245-254

Forms and Documents

Test Details

NPC2
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing Reflex to Exon Array

Ordering

247
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
* For price inquiries please email zebras@genedx.com

References

  1. Millat et al., (2005) Mol Genet Metab 86:220-232
  2. Park et al., (2003) Hum Mut 22:313
  3. Verot et al., (2007) Clin Genet 71:320-30
  4. Sevin et al., (2007) Brain 130:120-133
  5. Fernandez-Valero et al., (2005) Clin Genet 68 :245-254