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Test Code LAB9148 Nonketotic Hyperglycinemia Panel

Performing Section

PRECISION DIAGNOSTICS

Purpose/Principle

The CHCO Nonketotic Hyperglycinemia (NKH) Panel utilizes next-generation sequencing technology to detect genomic variants in genes that are associated with glycine cleavage system. This test is useful for the diagnosis of patients who are suspected to have classic or variant nonketotic hyperglycinemia. The panel evaluates the coding regions and adjacent intronic bases of 13 genes for DNA variants. Copy number events are assessed by supplementing the exonic regions of interest with uniformly placed genomic hybridization probes. The assay is designed to detect SNV and small indel events with >99% accurate and CNV events with a >1 MB resolution.

Special Collection Notes

Collect specimen according to standard operating procedure.

Specimen Type

-Whole Blood:

Purple Top Tube-EDTA

 

-Mouth:

Buccal Swab

Specimen Volume

Whole Blood
Preferred: 4.0 mL
Minimum: 0.5 mL

Processing Instructions

Store and ship ambient. If transport is longer than 4 hours send refrigerated on cold pack.

 

NOTE: Samples should be received within 72 hours of collection if possible – maximum 5 days. Our recommendation is to use FedEx or UPS for shipping and obtain a tracking number to ensure safe delivery. Samples that are received on a Friday afternoon, Saturday, Sunday or before a major holiday will not be processed until the next business day. If samples need to be stored in your laboratory prior to shipping, they should be stored at room temperature or refrigerate until you send; do not freeze. Local couriers may be used to deliver specimens within the Denver metropolitan area.

Temperature

Ambient/Refrigerated

Test Components

Gene Panel: AMT, GLDC, GCSH, BOLA3, NFU1, LIAS, GLRX5, LIPT1, LIPT2, IBA57, SLC6A9, MECR, SLC25A26

Reference Range

NKH Result

Negative: No Clinically significant variants identified

TAT

3-5 Weeks

Aliases

NKH

CPT

81479