Targeted XLID Gene Analysis

Flexible single gene analysis is available to meet the diversified genetic testing approach of individual physician and/or genetic counselor.

The table below provides a brief summary of individual genes linked to X-linked intellectual disability with descriptive phenotype and gene function. Individual full gene and/or deletion duplication analysis can be ordered separately or in combination.

GENE(S)	CLINICAL PHENOTYPE	GENE FUNCTION
ARX	Infantile spasms X-linked lissencephaly Agenesis of corpus collosum Abnormal genitalia	Transcriptional regulator active during neurogenesis Located on Xp21.3, comprised of 5 exons with majority of mutations in exon 2
ATRX	Glioblastoma Urogenital abnormalities	In vitro studies show involvement in chromatin remodeling and regulation of gene expression Located on Xq21.1 containing 35 exons
CASK	Microcephaly Hypotonia Potocerebellar hypoplasia Nystagmus	Calcium/calmodulin-dependent serine protein kinase implicated in synaptic function Located on Xp11.4 containing 27 exons
CUL4B	Short stature and obesity Hypogonadism Abnormal gait	Cullin-RING ubiquitin ligase complex active in cell cycle regulation and immune response Located on Xq24 containing 22 exons
FMR2	Attention deficit disorder Learning disability Autistic like behavior	FMR2 gene lies ~600 kb distal to the FMR1 gene known to cause Fragile X syndrome with full CCG repat expansion Located on Xq28
L1CAM	Hydrocephalus Adducted thumbs Spastic paraplegia Hirschsprung disease	Membrane glycoprotein mediates intercellular adhesion involved in neural function Located on Xq28 containing 28 exons
NLGN3/NLGN4X	Pervasive developmental disorder Impaired social interaction Developmental delay	Cell-adhesion protein present on thepostsynaptic side implicated in remodeling of neuronal synapses NLGN3 is located on Xq13 containing 7 exons NLGN4X is located on Xp22.3 containing 6 exons
PQBP1	Short stature Anal atresia Brachycephaly	Transcriptional regulator expressed in the CNS during embryogenesis Located on Xp11.23 containing 7 exons
SLC16A2	Decreased T3 uptake Muscle hypoplasia Neurological difficulties	Transmembrane protein responsible for transport of triiodothyronine into neurons Located on Xq13.2
SYP	Epilepsy Impaired adaptive behavior	Membrane protein associated with small synaptic vesicles in the brain and endocrine cells Located on Xp11.23 containing 7 exons
UPF3B	Macrocephaly Tall stature, thin long face High arched palate	Regulates nonsense transcript homolog B, involved in nonsense-mediated mRNA decay Located on Xq25 containing 25 exons
ZNF711/ZNF81	Uncharacterized developmental delay Profound learning disability	Transcription factors with Krupple-type zinc finger binding motif ZNF711 is located on Xq21.1 containing 7 exons ZNF81 is located on Xp11.23 containing 4 exons

Disease Name

X-Linked Intellectual Disability

Specimen Requirements

Blood Samples:
Container: Purple top EDTA tube (preferred) or yellow top citric acetate tube.
Amount: Adult 3-5 cc, pediatric 2 cc minimum.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.

DNA:
Container: Sterile plastic tube.
Amount: 5 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 200 μl at ~100 ng/μl conc.
Storage: -20°C.
Shipment: Shipment frozen on dry ice is preferred, or ship on ice.

Saliva:
Container: Oasis DNA Self Collection container.
Amount: 2 ml.
Storage: At room temperature in sterile bag.

Shipment: Ship room temperature for two-day deliver

Billing Codes

TEST CODE	TECHNIQUE
3140	ARX Gene Sequence Analysis
4400	ATRX Gene Sequence Analysis
3180	CASK Gene Sequence Analysis
3220	CUL4B Gene Sequence Analysis
3020	FRAXE Gene Sequence Analysis
4780	L1CAM Gene Sequence Analysis
3380	NLGN3 Gene Sequence Analysis
3400	NLGN4 Gene Sequence Analysis
3440	PQBP1 Gene Sequence Analysis
4260	SLC16A2 Gene Sequence Analysis
3500	SYP Gene Sequence Analysis
3540	UPF3B Gene Sequence Analysis
3640	ZNF711 Gene Sequence Analysis
3600	ZNF81 Gene Sequence Analysis

Updated CPT Codes for 2013

Turnaround Time

Technique	Days
Individual Gene Sequence Analysis	21-35

Specialty

Neurology

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Targeted XLID Gene Analysis