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:
A customized CytoSure “exon-centric” array (Oxford Gene Technology) will be used to detect deletions and duplications. The targeted array has enhanced probes targeted to the exonic regions of PANK2. The arrays are run using Agilent SureScan technology.
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
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 Direct 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 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.