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Univ Chicago #PANK2 gene
Test CodeNMCP007
CPT Codes
81405
Preferred Specimen
3 to10 cc of blood
Minimum Volume
3 cc
Transport Container
purple top (EDTA) tube
Methodology
"We offer mutation analysis of all 7 coding exons and intron/exon boundaries of PANK2 by direct sequencing of amplification products in both the forward and reverse directions. We also offer deletion/duplication analysis of the PANK2 gene by MLPA or oligonucleotide array-CGH to identify deletions/duplications of one or more exons. Partial exonic copy number changes and rearrangements of less than 400 bp may not be detected by array- CGH. Array-CGH will not detect low-level mosaicism, balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype. The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory. For best results, please provide a fresh blood sample for this testing."
Report Available
"4 – 6 weeks Results, along with an interpretive report, will be faxed to the referring physician. Additional reports will be
provided as requested. All abnormal results will be reported by te
provided as requested. All abnormal results will be reported by te
Clinical Significance
"Pantothenate Kinase-Associated Neurodegeneration (PKAN) is one type of NBIA (neurodegeneration with brain
iron accumulation) disorder. In 1922, PKAN was first described by two German neuropathologists, who termed
the condition as “Hallervorden-Spatz” syndrome. Now that the PANK2 gene has been identified, the term “PKAN”
is preferred. Mutations in PANK2 can manifest into two categories with wide clinical variability. Not all individuals
will fall into one of these two categories (1, 2). The PANK2 gene, located at 20p13-p12.3, codes for one of four pantothenate kinase proteins (4). PANK2 is a
key regulatory enzyme in several metabolic pathways of Coenzyme A biosynthesis. More specifically, it acts as a
catalyst for the phosphorylation of pantothenate (vitamin B5), N-pantothenyl-cystine, and pantetheine. PKAN is
caused by a deficiency or complete absence of PANK2, which has been hypothesized to lead to the accumulation
of substrates and cell toxicity. More than 100 null and missense mutations have been identified in the PANK2
gene (2). Recently, deletions in PANK2 have also been identified in a minority of patients (5). Individuals who
are homozygous for null alleles tend to present with classic PKAN. Compound heterozygotes for missense
mutations may present with classic or atypical PKAN. It is unknown if individuals with atypical PKAN have partial
PANK2 enzyme function (1). PANK2 sequence analysis will detect mutations in over 98% of individuals with
NBIA and the “eye of the tiger sign”, but in only 50% of individuals with a clinical diagnosis of NBIA (2). Intragenic
deletions of one or more exons of the PANK2 gene have been reported in approximately 4% of alleles in affected
individuals (5). "
iron accumulation) disorder. In 1922, PKAN was first described by two German neuropathologists, who termed
the condition as “Hallervorden-Spatz” syndrome. Now that the PANK2 gene has been identified, the term “PKAN”
is preferred. Mutations in PANK2 can manifest into two categories with wide clinical variability. Not all individuals
will fall into one of these two categories (1, 2). The PANK2 gene, located at 20p13-p12.3, codes for one of four pantothenate kinase proteins (4). PANK2 is a
key regulatory enzyme in several metabolic pathways of Coenzyme A biosynthesis. More specifically, it acts as a
catalyst for the phosphorylation of pantothenate (vitamin B5), N-pantothenyl-cystine, and pantetheine. PKAN is
caused by a deficiency or complete absence of PANK2, which has been hypothesized to lead to the accumulation
of substrates and cell toxicity. More than 100 null and missense mutations have been identified in the PANK2
gene (2). Recently, deletions in PANK2 have also been identified in a minority of patients (5). Individuals who
are homozygous for null alleles tend to present with classic PKAN. Compound heterozygotes for missense
mutations may present with classic or atypical PKAN. It is unknown if individuals with atypical PKAN have partial
PANK2 enzyme function (1). PANK2 sequence analysis will detect mutations in over 98% of individuals with
NBIA and the “eye of the tiger sign”, but in only 50% of individuals with a clinical diagnosis of NBIA (2). Intragenic
deletions of one or more exons of the PANK2 gene have been reported in approximately 4% of alleles in affected
individuals (5). "
