Hydrocephalus


Test Details
TEST CODE NGS426
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 69
CPT CODE 81405 x2, 81406 x2, 81407, 81479
PRICE $1795
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Hydrocephalus is one of the most common congenital anomalies affecting the nervous system, and is an abnormal accumulation of cerebrospinal fluid (CSF) within the ventricles. Cerebrospinal fluid is produced in the ventricles in the choroid plexus. It circulates through the ventricular system in the brain and the spinal cord and is absorbed into the bloodstream. This fluid is in constant circulation and has many functions, including to surround the brain and spinal cord and act as a protective cushion against injury. It contains nutrients and proteins necessary for the nourishment and normal function of the brain, and carries waste products away from surrounding tissues. Hydrocephalus occurs when there is an imbalance between the amount of CSF that is produced and the rate at which it is absorbed. As the CSF builds up, it causes the ventricles to enlarge and the pressure inside the head to increase.

Hydrocephalus can have a genetic basis, and can be part of a syndrome. The inheritance pattern is based on the syndrome and can be autosomal recessive, autosomal dominant, or x-linked. Classic X-linked recessive hydrocephalus accounts for approximately 7% of male hydrocephalus. The gene associated is L1CAM. The condition is characterized by aqueductal stenosis, severe intellectual disability, adducted thumbs, and spasticity.

Relevant Diseases
  • Hydrocephalus

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: Acceptable specimen types: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. Cell culture media may be requested from MNG; (6) Buccal cells.
Shipping Condition: Shipping instructions: MNG Kits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG Kit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped frozen in an insulated container with 5-7lbs dry ice. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge. (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted). (5) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). Ship priority overnight.

Genes Assessed
AKT3
AP1S2
ARSB
B3GALNT2
B3GNT1
BRAF
CC2D2A
CEP290
CLIC2
COL4A1
DHCR24
DHCR7
EBP
ERCC6
FAM20C
FBN1
FKRP
FKTN
FLNA
FLVCR2
GALC
GBA
GFAP
GPC3
GPSM2
GUSB
HCCS
HRAS
IDS
IDUA
IFT172
ISPD
KIAA0196
L1CAM
LAMB1
LARGE
MED12
MKS1
MMACHC
MPDZ
MTM1
MUSK
NANS
NF1
NRAS
OFD1
PIK3CA
PIK3R2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PORCN
PTCH1
PTEN
PYCR1
RAPSN
RNASEH2A
SKI
SLC17A5
SUMF1
TGFBR1
TGFBR2
TMEM216
TMEM237
TMEM67
ZIC2
ZIC3

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