Neurology: Deletion/Duplication Panel
Condition Description
Disorders that affect the nervous system include a large group of
conditions with genetic and phenotypic heterogeneity. As a group,
neurological disorders often have overlapping clinical features, such as
intellectual disability, seizures, microcephaly, and motor disability.
Other characteristics may include brain malformations (lissencephaly,
molar tooth sign), vision loss, speech difficulties, and respiratory
failure. This wide phenotypic spectrum can make diagnosis challenging,
but obtaining a specific diagnosis is important for prognosis, patient
management, and development of therapeutic strategies.
References:
References:
- Bras et al., (2012) Nature Reviews Neuroscience, 13:453-463.
- Nemeth et al., (2013) Brain, 136:3106-3118.
Genes (163)
ACTB, ACTG1, ADGRG1, ADGRV1, ADSL, AHI1, ALDH7A1, ARFGEF2, ARHGEF9, ARX, ASPM, ATP1A2, ATP6AP2, ATR, ATRX, BCKDK, CACNB4, CASK, CC2D2A, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, DCX, DHCR7, DISP1, DNAJC5, EFHC1, EHMT1, EOMES, EPM2A, EXOSC3, FGF8, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXH1, GABRA1, GABRG2, GAMT, GATM, GLI2, GOSR2, GRIN2A, GRIN2B, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1BP, KIF7, KNL1, LAMC3, LARGE1, LGI1, LIAS, MAGI2, MAPK10, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MKS1, MYCN, NDE1, NHLRC1, NIN, NODAL, NPHP1, NRXN1, OPHN1, ORC4, ORC6, PAFAH1B1, PCDH19, PCNT, PLCB1, PNKP, PNPO, POC1A, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RELN, RPGRIP1L, RTTN, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SHH, SIX3, SLC19A3, SLC25A19, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STXBP1, SYN1, TBC1D24, TCF4, TGIF1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, UBE3A, VLDLR, VRK1, WDR62, ZEB2, ZIC2, ZNF335
Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.
Indications
This test is indicated for:
- Confirmation of a clinical diagnosis of neurological 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.
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 ugIsolation 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.
Related Tests
- Neurology: Sequencing Panel
- Brain Malformations: Sequencing Panel
- Epilepsy and Seizure Disorders: Sequencing Panel