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Inherited Metabolic Disorders: Deletion/Duplication Panel

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Condition Description

Inherited metabolic disorders refer to diseases caused by defects in genes that are involved in the body’s metabolism. These usually involve the production, conversion, or use of energy. Traditionally, inherited metabolic conditions were broadly classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. This test analyses genes involved in complex metabolic processes in the body including but not limited to the above four categories.

Reference:  
  • OMIM.

Genes (100)

ACAD9, ACADL, ACADM, ACADS, ACADVL, ACSF3, AGA, AGL, ARSA, ARSB, ASL, ASS1, ATPAF2, AUH, BCKDHA, BCKDHB, CD320, CLN3, CLN5, CLN6, CLN8, CPS1, CPT1A, CPT2, DBT, DLD, ENO3, ETFA, ETFB, ETFDH, G6PC, GAA, GALC, GALNS, GBE1, GLA, GLB1, GM2A, GNPTAB, GYS1, GYS2, HADHA, HADHB, HGSNAT, HLCS, HMGCL, HMGCS2, HYAL1, IDS, IDUA, IVD, LIPA, LMBRD1, LPIN1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OPA3, OTC, PC, PCCA, PCCB, PFKM, POLG, PPT1, PYGL, PYGM, SERAC1, SGSH, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC37A4, SLC7A7, SMPD1, SUCLG1, SUMF1, TAZ, TMEM70, TPP1
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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of inherited metabolic disorders.

Methodology

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.

Detection

Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).

Submit only 1 of the following specimen types

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Isolated DNA

Specimen Requirements:

In microtainer: 10 ug

Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.

Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.

  • Inherited Metabolic Disorders: Sequencing Panel

How to Order

Requisition Forms