Neurotransmitter Metabolism Deficiency
|TAT (TURNAROUND TIME)||2 - 4 weeks|
|RECOMMENDED MNG KITS||
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.
|Acceptable Sample Types||
|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).|