• Test Code:
    2232
  • Department:
  • Test Synonyms:
    Hallervorden-Spatz SyndromePANK2Pantothenate Kinase-associated NeurodegenerationNBIA
  • CPT Code(s):
    81479
Background:

Pantothenate kinase-associated neurodegeneration (PKAN) (previously known as Hallervorden-Spatz syndrome) is a progressive neurodegenerative disorder with brain iron accumulation. Symptoms include progressive dystonia, dysarthria, rigidity, and retinitis pigmentosa. Classical PKAN has its onset in the first decade of life; atypical PKAN presents with later onset and slower disease progression. The disease is autosomal recessive and is caused by mutations in the pantothenate kinase 2 (PANK2) gene.  

Reasons for Referral:

  • Confirmation of clinical diagnosis in patients with classical or atypical PKAN.
  • Carrier testing of family members of PKAN patients.
  • Prenatal diagnosis.

Methodology:

MLPA: Large deletions and duplications are detected using multiplex ligation-dependent probe amplification (MLPA).
 
Test reporting follows the American College of Medical Genetics guidelines.

Specimen Requirements:

Blood: EDTA (purple top) or ACD (yellow top) (Solutions A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Prenatal:

  • Direct Amniotic Fluid (10-20mL)
  • Direct CVS
  • Cultured Amnio or CVS (2-T25 flasks)

DNA: 10µg at a minimum of 100ng/µL

Notice Regarding Molecular Genetic Testing on CVS or Amniotic Fluid Specimens:

  • Maternal cell rule-out testing will be performed on all prenatal specimens received. Please provide maternal blood in addition to the fetal specimen. Additional charges apply for the maternal cell rule-out test.
  • All genetic testing performed on Direct CVS or Amniotic Fluid specimens will be confirmed on cell cultures prepared by Knight Diagnostic Laboratories. Cell cultures will be prepared from the specimen received. Additional charges apply for confirmatory testing.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

14 – 21 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cool, but not frozen. 
  • Please use the cold pack provided in the kit. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

Related tests performed in our laboratory: 
Full PANK2 Sanger sequencing 

Prior to any genetic testing we recommend genetic counseling.
  Please contact Client Services at (855) 535-1522 for forms and information about prenatal diagnostic testing.

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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