Macrocephaly and Overgrowth Syndromes


Test Details
TEST CODE NGS398
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 125
CPT CODE 81302, 81304, 81405, 81406 x3, 81407, 81408, 81479
PRICE $1795
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance In overgrowth syndromes, the growth may be symmetric or localized to a specific area of the body, such as in macrocephaly or hemihypertrophy, respectively. Macrocephaly is a condition in which the head is abnormally large (circumference 2.5 standard deviations above normal for age, weight and gender), inclusive of the scalp, cranial bone, and intracranial contents. Macrocephaly may be due to a true enlargement of the brain (megalencephaly), or due to other conditions such as hydrocephaly, cranial thickening, and be either syndromic or non-syndromic. Non-syndromic macrocephaly refers to conditions in which the enlarged brain is the predominant abnormality, not associated with any other malformation. Syndromic macrocephaly means that signi?cant abnormalities (physical or behavioral) are associated with the generalized brain enlargement. The genetic macrocephaly conditions cover a broad spectrum of disorders and their related proteins have diverse biological functions. As of yet it is not clear what specific biological pathways lead to the generalized brain overgrowth.
Relevant Diseases
  • Macrocephaly/Overgrowth Syndrome

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (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. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (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 (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
ABCC9
ADK
AKT2
AKT3
APC2
ARSB
ASPA
ASXL2
B4GALT1
B4GALT7
BRAF
BRWD3
CDKN1C
CHD4
CHD8
COL2A1
CUL4B
D2HGDH
DHCR24
DNMT3A
EFEMP2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ETFA
ETFB
ETFDH
EXT2
EZH2
FBLN5
FH
FOXRED1
GCDH
GFAP
GJA1
GLI3
GNAQ
GPC3
GPSM2
GRIA3
GUSB
HECW2
HEPACAM
HEXB
HRAS
HSD17B4
HUWE1
IDS
IDUA
IGBP1
INPP5E
ISPD
KDM5C
KIF7
KPTN
KRAS
L1CAM
LAMB1
MAN2B1
MECP2
MED12
MGAT2
MLC1
MOCS1
MOCS2
MPDZ
MTM1
MYH8
NDUFA1
NDUFA11
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAlsF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFV1
NDUFV2
NF1
NFIA
NFIX
NPR2
NRAS
NSD1
NUBPL
OFD1
OPHN1
PDGFRB
PDSS1
PEX1
PHF6
PIGA
PIK3CA
PIK3R2
PTCH1
PTEN
RAB39B
RIN2
RIT1
RNF135
ROR2
SERPINH1
SETD2
SHANK3
SHOC2
SLC25A1
SOS1
SPG20
SPRED1
STRADA
SYN1
TBCD
THRA
TMEM216
TSC1
TSC2
UPF3B

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