• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Hallervorden-Spatz SyndromePANK2NBIA
  • CPT Code(s):

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.


Sequencing can be performed by either Sanger Sequencing or Next-Generation Sequencing.

Sanger Sequencing:  Sequencing of PANK2 is carried out by amplification of all exons and intron/exon boundaries followed by bi-directional Sanger sequencing.  The sensitivity of full gene sequencing is estimated to be approximately 99% for single nucleotide substitutions and small insertions/deletions.  All nucleotide changes are analyzed within the context of current databases and literature to predict pathogenicity.

NGS SequencingNext 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


  • 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):


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.


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.