Nuclear-Mito NGS Panel | Fulgent Genetics

Panel Description

Overview:

Mitochondrial diseases are a diverse set of disorders that interfere with the body’s ability to produce energy. Dysfunction of the mitochondrial respiratory chain results in a clinically heterogenous group of conditions with a wide range of overlapping symptoms including hearing loss, ophthalmoplegia and other eye problems, myopathy, cardiomyopathy, seizures, stroke-like episodes, ataxia, and diabetes mellitus.

This test examines nuclear-encoded genes that play a role in mitochondrial energy metabolism. Mitochondrial DNA genes are not examined as part of this test.

Who is this test for?

This panel is recommended for anyone with a personal or family history of symptoms of mitochondrial disease associated with nuclear DNA including muscle weakness or cramping, cardiomyopathy, eye problems, hearing loss, or other neurological abnormalities. It may also benefit patients who tested negative on targeted mitochondrial gene panels.

What are the potential benefits for my patient?

Diagnosis of mitochondrial disorders is difficult as the symptoms overlap with other conditions. Genetic testing can help confirm a diagnosis and determine the specific etiology present, leading to more personalized treatment.

Genetic testing for mitochondrial disorders can:

Establish or confirm the appropriate diagnosis
Identify risks for additional related symptoms
Assist in modifying lifestyle changes, including diet and exercise
Result in more personalized treatment and symptom management
Inform family members about their own risk factors
Connect patients to relevant resources & support
Provide options for family planning

Test Description

Order Options:

Sequencing
Del/Dup
Rush / STAT
Exclude VUS
MCC
Duo/Trio

Turnaround Time:

3-5 weeks

Cost:

Call for details

Genes:

AAAS, AARS, AARS2, AASS, ABAT, ABCB11, ABCB4, ABCB6, ABCB7, ABCB8, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABHD5, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACHE, ACLY, ACO2, ACSF3, ACSL4, ACSL5, ACSM3, ADSL, AFG3L2, AGK, AGL, AGPS, AGXT, AGXT2, AIFM1, AK2, AK3, AKAP10, AKR7A2, AKT1, AKT2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, AMT, ANK2, ANKRD26, APOPT1, APTX, ARG1, ARMS2, ARX, AS3MT, ASL, ASS1, ATAD3A, ATAD3B, ATIC, ATP10D, ATP5F1A, ATP5F1B, ATP5F1E, ATP7B, ATP8B1, ATPAF2, ATXN7, AUH, B4GALT1, BAX, BCAT1, BCAT2, BCKDHA, BCKDHB, BCL2, BCS1L, BOLA3, C12orf65, C19orf12, CA5A, CACNA1A, CACNA1S, CACNA2D1, CARS2, CASP8, CCT7, CDC42BPB, CDKL5, CFTR, CHAT, CHCHD10, CHDH, CHKB, CHRNA4, CHRNB2, CISD2, CKM, CKMT1B, CLCN1, CLCN2, CLCN5, CLCN7, CLCNKB, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLYBL, CNR1, COA5, COA6, COASY, COG4, COG5, COG6, COG7, COG8, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7A1, COX7A2, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1B, CPT2, CTSD, CYB5A, CYB5R3, CYBA, CYBB, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDAH1, DDC, DDHD1, DDHD2, DDOST, DECR1, DGUOK, DHODH, DHTKD1, DIABLO, DISC1, DLAT, DLD, DMAC2, DMGDH, DNA2, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, DTNBP1, EARS2, ECHS1, ECI1, ECSIT, ELAC2, ELN, ENO1, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAAH, FAH, FARS2, FASN, FASTKD2, FBP1, FBXL4, FDPS, FDX2, FECH, FH, FLAD1, FOLR1, FOXC1, FOXG1, FOXRED1, FTH1, FXN, G6PC, G6PD, GAA, GAD1, GAD2, GALC, GAMT, GARS, GATD3A, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLO1, GLRA1, GLRX5, GLS, GLUD1, GLYCTK, GMPPA, GNAS, GNPAT, GPAM, GPD1, GPD2, GPI, GPX1, GPX4, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, H6PD, HADH, HADHA, HADHB, HARS, HARS2, HCCS, HCFC1, HIBCH, HIGD2A, HK1, HK2, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPB7, HSPD1, HSPE1, HTRA2, IARS2, IBA57, IDE, IDH1, IDH2, IDH3B, IMMP2L, IMMT, INPP5E, INSR, ISCA2, ISCU, IVD, KARS, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ11, KCNJ2, KCNQ1, KCNQ2, KCNQ3, KIF1B, KRT5, KYNU, L2HGDH, LAMP2, LARS, LARS2, LDHA, LDHB, LETM1, LIAS, LIPT1, LMBRD1, LRPPRC, LRRK2, LYRM4, LYRM7, MAOA, MAOB, MARS, MARS2, MAVS, MCCC1, MCCC2, MCEE, MDH1, MECP2, MECR, MED23, MEN1, MFF, MFN2, MFSD8, MGAT2, MGLL, MGME1, MGST3, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL12, MRPL15, MRPL19, MRPL3, MRPL43, MRPL44, MRPL48, MRPL57, MRPS12, MRPS16, MRPS17, MRPS18A, MRPS22, MRPS7, MRRF, MTCH2, MTFMT, MTHFD1, MTHFD1L, MTO1, MTPAP, MTR, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB11, NDUFB3, NDUFB6, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NGLY1, NIPSNAP1, NIPSNAP3A, NLRX1, NME1, NNT, NOS3, NPL, NR2F1, NRXN1, NUBPL, OAT, OGG1, OPA1, OPA3, OTC, OXCT1, PACRG, PAH, PAK5, PANK2, PARL, PARP1, PARS2, PC, PCCA, PCCB, PCK1, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PKLR, PMM2, PNKD, PNMT, PNPT1, POLG, POLG2, POLRMT, PPARGC1A, PPOX, PPT1, PREPL, PRKAG2, PRKN, PRODH, PRPS1, PTGES2, PTRH2, PTS, PUS1, PYCR1, PYGM, QARS, QDPR, RAB11FIP5, RANBP2, RARS, RARS2, REEP1, RFT1, RMND1, RMRP, RNASEL, RPL35A, RPS14, RRM2B, RSPH9, RYR1, RYR2, SACS, SARDH, SARS2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SHMT1, SHMT2, SIRT1, SIRT3, SIRT5, SLC16A1, SLC19A2, SLC19A3, SLC22A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A16, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A3, SLC25A32, SLC25A35, SLC25A38, SLC25A39, SLC25A4, SLC25A42, SLC25A5, SLC25A6, SLC27A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC3A1, SLC5A8, SLC6A8, SLC7A7, SOD2, SPART, SPAST, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSR4, STAR, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAP1, TARS2, TAT, TAZ, TCIRG1, TDP1, TFAM, TFB1M, TIMM13, TIMM44, TIMM50, TIMM8A, TIMM9, TK2, TKT, TMEM126A, TMEM165, TMEM70, TOMM40, TOP1MT, TP53, TPH2, TPI1, TPK1, TPP1, TRIT1, TRMU, TRNT1, TSFM, TSPO, TST, TTC19, TUFM, TWNK, TXN2, TXNRD2, TYMP, UBE3A, UCP1, UCP2, UCP3, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROS, USP24, VARS2, WARS2, WDR4, WFS1, WWOX, XPNPEP3, YARS2 ( 677 genes )

Coverage:

96% at 20x

Specimen Requirements:

Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)

Test Limitations:

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Specifics:

Gene	Notes
FXN	The FXN gene mutations most commonly associated with disease are expansions of a GAA trinucleotide repeat sequence. Only sequence variants and copy number changes in this gene are tested as part of this test unless specifically noted above. Repeat expansion testing may be warranted if the clinical presentation of the patient is specific for a condition associated with this gene.
MECP2	Currently available technologies (NGS and qPCR) are not amenable to detection of single exon deletions/duplications of exon 1 in the MECP2 gene.

CPT Codes:

CPT Code

81407, 81408, 81479

NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.