Hydrocephalus


Test Details
TEST CODE NGS426
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 172
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
ADAT3
AKT3
AMER1
ANKLE2
ANTXR1
AP1S2
ARHGAP31
ARSB
ATP6V1A
B3GALNT2
B3GALTL
B3GAT3
B3GNT1
BGN
BMP4
BRAF
BRF1
BUB1B
CC2D2A
CCDC174
CCDC41
CCND2
CENPF
CEP120
CEP290
CKAP2L
CLIC2
CNNM2
COL18A1
COL4A1
COL4A2
CRB2
DAG1
DHCR24
DHCR7
DNAI1
DOCK6
DPH1
EBP
ERCC6
ERF
ESCO2
EVC
EVC2
FAM20C
FANCL
FBN1
FGFR1
FGFR2
FGFR3
FKRP
FKTN
FLNA
FLVCR2
FTO
GALC
GBA
GFAP
GPC3
GPSM2
GPX4
GUSB
H19
HCCS
HDAC6
HERC1
HNRNPU
HRAS
HYLS1
ICK
IDS
IDUA
IFT172
ISPD
JAM3
KATNB1
KIAA0196
KIAA0586
KIAA0753
KLHL15
L1CAM
LAMA1
LAMB1
LARGE
LIPT2
LMNB2
LONP1
MAF
MAG
MAPRE2
MED12
MKS1
MMACHC
MPDZ
MSX2
MTM1
MUSK
NADK2
NANS
NDE1
NEK1
NF1
NOTCH2
NRAS
OFD1
OSGEP
OSTM1
P4HB
PIK3CA
PIK3R2
PLG
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PORCN
PPP2R1A
PPP2R5D
PRKAR1A
PTCH1
PTEN
PYCR1
QARS
RAB18
RAC1
RAD51
RAPSN
RERE
RNASEH2A
RNASET2
RNF113A
RNF125
SAMD9
SEC24D
SF3B4
SIN3A
SKI
SLC17A5
SMG9
SMO
SNIP1
SOX9
SPECC1L
STAC3
SUMF1
TAPT1
TBCE
TBCK
TBX15
TCF12
TCIRG1
TGFBR1
TGFBR2
THOC2
TIMMDC1
TMCO1
TMEM107
TMEM126B
TMEM216
TMEM237
TMEM67
TP53
TRAIP
TWIST1
USP18
WDR73
WNT3
XRCC4
ZIC2
ZIC3
ZSWIM6

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