Neurotransmitter Metabolism Deficiency


Test Details
TEST CODE NGS315
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 59
CPT CODE 81479
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

Order Kit


Clinical Information
Clinical Significance

Neurotransmitter disorders are a heterogeneous group of inherited neurometabolic disorders caused by defects in the synthesis, degradation and transport of neurotransmitters including monoamines, glycine, and gamma-amino butyric acid. Monoamine neurotransmitters consist of catecholamines (dopamine, norepinephrine and epinephrine) and serotonin which play major roles in the control of locomotion, mood and behavior.

The onset of neurotransmitter disorders can occur at any age but most commonly in infancy and childhood. The clinical presentations are mainly neurological features including dystonia, developmental delay, truncal hypotonia, dyskinesia, spastic paraparesis, choreoathetosis, oculogyric crises, seizures and autonomic dysfunctions. The clinical features are highly variable depending on the type and severity with substantial clinical overlaps among the disorders in this group. Furthermore, the clinical phenotype also mimics that of many other neurological disorders. The inheritance is mostly autosomal recessive except for autosomal dominant guanosine triphosphate (GTP) cyclohydrolase 1 (GCH1) deficiency. An accurate diagnosis has important implications as some of these disorders are readily treatable.

Relevant Diseases
  • Neurotransmitter Metabolism Disorders

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
ABAT
ALDH5A1
ALDH7A1
ARHGEF9
ASNS
ATP1A3
CACNA1A
CACNA1B
CBS
COMT
DBH
DDC
DHFR
DRD3
DRD4
DRD5
FOLR1
GABRA1
GABRB3
GABRD
GABRG2
GAD1
GCH1
GLDC
GLRA1
GLRB
GLUL
GNAQ
GPHN
HTR1A
HTR2A
MAOA
MTHFD1
MTHFR
PC
PCBD1
PHGDH
PITX3
PNPO
PTS
QDPR
SLC1A3
SLC46A1
SLC6A1
SLC6A2
SLC6A3
SLC6A4
SLC6A5
SLC6A9
SNAP25
SNAP29
SNCA
SPR
STXBP1
SYN1
SYN2
SYP
TH
TPH2

Back to Test Directory