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Denver Genetic Laboratories
 

Glycine Cleavage Microassay

Clinical Test Information - UCD Biochemical Genetics Laboratory


 

CPT Codes:

82657

82658

Availability:

Monday - Friday, 0800 - 1700.

Turnaround Time:

One month.

Specimen Requirements:

Liver tissue: Please see the detailed instructions below. Minimum 20 mg required.

Liver samples can be obtained as a wedge biopsy or as a needle biopsy. It is important to ensure that sufficient liver tissue is obtained.  If using a needle biopsy, obtain two (2) needle biopsies 14 Gauche Bard monopty instrument 2 cm length.  Postmortem samples have to be obtained within 6 hours of death, but preferably within 2 hours of death as interpretation will become more difficult with time.

Place the liver biopsy in either Parafilm or aluminum foil, and then place in a 2 ml cryotube, then close the screw cap tightly.

Freeze immediately in liquid nitrogen or on dry ice, and maintain in frozen condition. If possible, weigh liver biopsy before placing in the cryotube.  If the specimen was not weighed before it was frozen, DO NOT attempt to weigh a frozen sample as the samples degrade very easily.  Instead, ship the sample to the RC Core Lab without a weight.  Lab personnel will weigh the sample.

Keep sample in -70° C freezer. Samples will not be stable at -20° C. Samples that have thawed even for a short period are not acceptable.  Weighing the sample will cause thawing.  DO NOT ATTEMPT TO WEIGH A FROZEN SAMPLE.

All tissue specimens should be frozen immediately in liquid nitrogen, or on dry ice, and stored at -70° C. Specimens should be shipped frozen on dry ice.

Please also enclose a completed requisition form.

Primary contact for mitochondrial enzyme assay:

Marisa Friederich, PhD
Phone: 303-724-3841
Email: marisa.friederich@ucdenver.edu

Interpretive Reference Ranges:

Liver:
Range 29 - 163 pmol/h/mg protein

Use:

Diagnosis of nonketotichyperglycinemia.

Methodology:

Radiochemical enzyme assay.

The assay of the succinate dehydrogenase is used a s a control enzyme.