Medical Genetics Test Details
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|Peroxisomal Disorders Panel by Massively Parallel Sequencing (BCM-NGSSM)|
|Test Information:||Confirmation of Clinical Diagnosis, Carrier Testing
This panel includes 15 genes that are critical for peroxisome assembly and biogenesis and 7 genes that encode single enzymes for peroxisome functions. These 22 nuclear genes are responsible for the peroxisomal biogenesis disorders (PBD) and the single peroxisomal enzyme deficiencies.
The PBD is a clinically and genetically heterogeneous group of autosomal recessive disorders, including Zewellgear Syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum's disease (IRD), and rhizomelic chondrodysplasia punctata (RDCP). Affected children show increased plasma level of very-long-chain fatty acids. Mutations in genes PEX1/2/3/4/6/12/14/26 are responsible for ZS, which has clinical features of severe hypotonia, neonatal seizures, craniofacial dysmorphism such as high forehead and large anterior fontanel, glaucoma, and impaired hearing. Mutations in genes PEX1/5/10/13/16 and genes PEX1/2/26 are responsible for NALD and IRD respectively. Both NALD and IRD have similar but less severe clinical features of ZS. RCDP type 1 is causes by mutations in gene PEX7, which is characterized by systemic shortening of the proximal bones, seizures, and congenital cataracts.
The single peroxsisomal enzyme deficiencies and their involved genes include Rhizomelic chondrodysplasia punctata type 2 (GNPAT), Rhizomelic chondrodysplasia punctata type 3 (AGPS), Acyl-CoA oxidase deficiency (ACOX1), D-bifunctional protein deficiency (HSD17B4), 2-MethylacylCoA racemase deficiency (AMACR), Sterol carrier protein X deficiency (SCP2), Refsum disease or phytanoyl-CoA hydroxylase deficiency (PHYH).
The following genes are included in this panel: ACOX1, AGPS, AMACR, DNM1L, GNPAT, HSD17B4, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH & SCP2.|
Twenty-two nuclear encoded genes involved in peroxisomal biogenesis disorders and the single enzyme deficiencies are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation Sequence (NGS) technology.
The ACOX1 (#22105), AGPS (#22110), AMACR (#22115), DNM1L (#22120), GNPAT (#22125), HSD17B4 (#22130), PEX1 (#22135), PEX10 (#22140), PEX11B (#22145), PEX12 (#22150), PEX13 (#22155), PEX14 (#22160), PEX16 (#22165), PEX19 (#22170), PEX2 (#22175), PEX26 (#22180), PEX3 (#22185), PEX5 (#22190), PEX6 (#22205), PEX7 (#22210), PHYH (#22215), SCP2 (#22220) genes are analyzed by this panel. Individual NGS sequencing of these genes is also available using the associated test codes.
All coding exons of these 22 nuclear genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. Sequence analysis will not detect genomic structural rearrangements (e.g. heterozygous deletions, duplications, and inversions), large heterozygous insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants detected by NGS are confirmed by Sanger sequencing.
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing|
|Gene Name:||Please see "Test Includes" section.|
|Test Type:||Next Generation Sequencing|
|Sample & Shipping Information|
|Test Requisition:||Molecular Diagnostics|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s). Send at least 5cc (children) or 10cc (adults).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
|Specimen Type:||Purified DNA|
|Requirements:||Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
|Turn Around Time:||56 days|
|List Price:||*For Insurance or Institutional Prices, please call.|