A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Nemaline Myopathy
Test CodeCPT Codes
81400
Preferred Specimen
Minimum Volume
Other Acceptable Specimens
Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
Whole blood: Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission;
2) Documentation of parental carrier status must be provided;
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.
Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Transport Temperature
Specimen Stability
Room temperature: 14 days
Refrigerated: 8 days
Frozen: Unacceptable
All other specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Methodology
PCR amplification of specific gene regions followed by nucleotide sequence analysis on a massively parallel sequencing platform
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Reference Range
Clinical Significance
Nemaline myopathy is an autosomal recessive myopathy characterized by the presence of nemaline rods in muscle tissue. Clinical features include muscle weakness, typically most severe in the neck, face, and limbs, which may result in difficulties in breathing, feeding, and speech, as well as delayed motor functions.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |