• Test Code:
    2231
  • Department:
  • Test Synonyms:
    Hallervorden-Spatz SyndromePANK2NBIA
  • 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 classic or atypical PKAN.
  • Carrier testing of family members of PKAN patients.
  • Prenatal diagnosis of known familial PKAN mutations.

Methodology:

Next generation sequencing will analyze the exons or coding regions of PANK2 using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

>98% detection rate in patients with eye-of-the-tiger sign on MRI.

Test reporting follows the American College of Medical Genetics (ACMG) guidelines.

Specimen Requirements:

Blood: EDTA (purple-top) or ACD (yellow-top) tube

  • Adult: 6.0 mL
  • Child: 3.0 mL
  • Infant: 2.0-3.0 mL

Saliva: 2 ORAgene Saliva Kits (OGR-500) used according to manufacturer instructions.  Please contact KDL Client Services for a Saliva Collection Kit for patients that cannot provide a blood sample.

Assisted Saliva: 4 ORAgene Assisted Saliva Kits (OGR-575) used according to manufacturer instructions.  Please contact KDL Client Services for an Assisted Saliva Collection Kit for patients that cannot provide a blood sample.

Skin Fibroblast: Punch Biopsy (cell cultures will be prepared at KDL and used for testing), or 2 T-25 confluent flasks

Prenatal:

  • Direct Amniotic Fluid (10-20mL)
  • Direct CVS
  • Cultured Amniocytes (2 T-25 flasks)
  • Cultured CVS (2 T-25 flasks)
  • Cultured Fetal Tissue: Product of Conception (2 T-25 flasks)
  • Cord Blood (1-2mL)

DNA: 5-10µg at a minimum of 60-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

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.

For routine testing of blood and saliva (or DNA extracted from them), KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

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 cold, but not frozen. 
  • 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:

Custom sequencing of known familial mutations may be available; each request will be addressed given the specific parameters of each case.  Please call Client Services at (855) 535-1522 prior to submitting samples.

Deletion/Duplication analysis is also available.

Prior to any genetic testing we recommend genetic counseling.  To receive forms and information about prenatal diagnostic testing, please contact Client Services.

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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