Comprehensive Neuromuscular Gene Panel, Varies

Casandra

Casandra Test Code MC87843Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID MUPANCPT Code 81443

Comprehensive Neuromuscular Gene Panel, Varies

Clinical Use

Use

This test is particularly useful for establishing a molecular diagnosis for patients who present with neuromuscular disorders. By identifying variants within the 215 genes analyzed, this test allows for predictive testing in at-risk family members. It assists in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for a comprehensive range of neuromuscular disorders.

Special Instructions

Informed consent is required for New York clients. A copy should be documented on the request form or electronic order. Only 1 specimen should be submitted from the options listed. For patients who have undergone a bone marrow transplant, instructions should be obtained by contacting the provided number. For detailed algorithm and test order adjustments, refer to the Neuromuscular Myopathy Testing Algorithm.

Limitations

Next-generation sequencing (NGS) may not detect all types of genomic variants, and in rare cases, false-negative or false-positive results can occur. Technical limitations include regions of homology, high GC content, and repetitive sequences that may affect results. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp, but larger insertions/deletions and complex rearrangements may not be reliably detected. The analysis is not designed to detect mosaicism or differentiate somatic from germline variants.

Test Details

New York Approved

Methodology

NGS

Biomarkers

This component involves the sequencing of 215 genes associated with neuromuscular disorders, detecting single nucleotide and copy number variants. The test includes NGS and additional PCR-based methods for more detailed analysis including CNVs of SMN1 and SMN2 by ddPCR.

Mutation (215 genes)

ABHD5ACAD9ACADMACADSACADVLACTA1ADSS1AGKAGLAGRNALDOAALG14ALG2ANO5ASAH1ASCC1ATP1A2ATP2A1B3GALNT2B4GAT1BAG3BIN1BVESCACNA1SCAPN3CASQ1CAV3CAVIN1CFL2CHATCHCHD10CHKBCHRNA1CHRNB1CHRNDCHRNECLCN1COL12A1COL13A1COL6A1COL6A2COL6A3COLQCOQ2COQ4COQ6COQ8ACOQ9CPT2CRPPACRYABCTDP1DAG1DESDGUOKDMDDNA2DNAJB6DNM2DOK7DPAGT1DPM1DPM2DPM3DYSFEMDENO3ETFAETFBETFDHFAM111BFBXL4FDX2FHL1FKBP14FKRPFKTNFLAD1FLNCGAAGBE1GFERGFPT1GMPPBGNEGOSR2GYG1GYS1HADHAHADHBHNRNPA1HNRNPA2B1HNRNPDLHRASINPP5KISCUITGA7JAG2KBTBD13KCNJ2KLHL40KLHL41KYLAMA2LAMB2LAMP2LARGE1LDB3LDHALMNALMOD3LPIN1LRP4MAP3K20MATR3MBMEGF10MGME1MICU1MRPS25MSTO1MTM1MTO1MUSKMYBPC1MYH2MYH7MYMKMYOTMYPNNEBOPA1ORAI1PAX7PDSS1PDSS2PFKMPGAM2PGK1PGM1PHKA1PLECPNPLA2PNPLA8POGLUT1POLGPOLG2POMGNT1POMGNT2POMKPOMT1POMT2PREPLPRKAG2PUS1PYGMPYROXD1RAPSNRBCK1RNASEH1RRM2BRXYLT1RYR1SCN4ASDHASELENONSGCASGCBSGCDSGCGSIL1SLC18A3SLC22A5SLC25A1SLC25A20SLC25A3SLC25A4SLC25A42SLC5A7SPEGSQSTM1STAC3STIM1SUCLA2SUCLG1SUN1SUN2SYNE1SYT2TANGO2TAZTBCDTCAPTFGTIA1TK2TMEM43TMEM65TNNT1TNPO3TOR1AIP1TPM2TPM3TRAPPC11TRIM32TRIP4TSFMTTC19TTNTWNKUBA1VAMP1VCPVMA21YARS2