Carrier screening evaluates whether an individual carries a pathogenic/likely pathogenic variant associated with an autosomal recessive or X-linked condition that could affect offspring. Many carrier states are clinically silent, so molecular testing is often the most reliable way to identify reproductive risk before or during pregnancy. Results can support informed reproductive planning, targeted partner testing, and, when indicated, prenatal or preimplantation genetic testing.
The PreCheck Health Services Comprehensive Carrier Screening Panel is a germline, targeted exome assay designed for reproductive risk assessment. The panel is offered as coordinated male and female test options: the female panel includes autosomal genes plus X-chromosome genes, while the male panel focuses on autosomal genes. Together, these panels assess carrier status across a broad spectrum of severe, childhood-onset, and medically significant inherited conditions spanning metabolic, neuromuscular, hematologic, endocrine, lysosomal/peroxisomal, renal, immunologic, and other genetic disease categories.
Note:Female testing includes autosomal and X-linked carrier assessment; male testing focuses on autosomal carrier status, with partner testing recommended when a carrier result is identified.
❖ Pregnant individuals (prenatal screening) to refine reproductive risk assessment early in pregnancy and guide partner testing when indicated.
❖ Couples with a personal or family history of an inherited disorder, recurrent affected pregnancies, neonatal/infant loss, or known consanguinity, where identifying carrier status may clarify recurrence risk.
❖ Individuals with an affected child or relative with a suspected or confirmed autosomal recessive orX-linked condition, where carrier testing can support family planning and cascade testing.
❖ Individuals from any ancestry group who prefer broad, pan-ethnic screening rather than ancestry-targeted testing, recognizing that carrier frequencies vary and ancestry may be mixed or unknown.
❖ Individuals pursuing assisted reproduction (e.g., IVF),including those considering preimplantation genetic testing (PGT), donor gametes, or embryo selection strategies based on identified carrier status.
Important: these groupings are organizational (not exclusive)—some genes have multi system phenotypes and could reasonably fit more than one category. The female panel includes X-chromosome genes; the male panel is the autosomal-only counterpart(same framework, without X-linked genes).
1.Inborn errors of metabolism: amino acid, urea cycle, carbohydrate, and cofactor pathways
Genes associated with toxic metabolite accumulation, energy deficiency, or dependent enzymatic blocks; many conditions present in infancy/childhood and are actionable with early diagnosis.
❖ ACAT1, AGL, ALDOB,ALG6, AMT, ARG1, ASL, ASNS, ASPA, ASS1, BCHE, BCKDHA, BCKDHB, CBS, CPS1, DBT,DHCR7, DLD, ETHE1, FAH, G6PC, G6PD, GAA, GALK1, GALNS, GALT, GCDH, GLDC, HGD,HLCS, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MTHFR, MUT, NAGS, OAT, OTC, PAH, PC, PCCA,PCCB, PDHB, PKLR, PMM2, PTS, SLC25A13, SLC25A15, SLC37A4, SLC7A7, TAT, TTPA,UGT1A1
2. Fatty acid oxidation ,mitochondrial energy production, and mitochondrial gene expression
Genes involved inFAO/ETC support, mitochondrial translation, and related energy metabolism disorders.
❖ ACAD9, ACADM,ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GFM1, HSD17B10, MPV17, NDUFAF5, NDUFS6,PDHA1, RARS2, SLC22A5, TRMU, TSFM
3.Peroxisomal and lipid metabolism disorders
Genes affecting peroxisome biogenesis, VLCFA handling, and lipid transport/metabolism.
❖ ABCD1, ACOX1,ALDH3A2, CYP27A1, FH, HSD17B4, LDLRAP1, LIPA, LPL, MTTP, PEX1, PEX10, PEX12,PEX2, PEX6, PEX7
4. Lysosomal storage disorders and neuronal ceroid lipofuscinoses
Genes associated with lysosomalenzyme/transport defects, NCLs, and related neurodegenerative or multi system storage phenotypes.
❖ AGA, ARSA, ARSB,CLN3, CLN5, CLN6, CLN8, CTNS, GALC, GBA, GLA, GLB1, GNS, GNPTAB, GNPTG, GUSB,HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, MAN2B1, MCOLN1, MFSD8, NAGLU, NPC1, NPC2,PPT1, SLC17A5, SGSH, SMPD1, SUMF1, TPP1
5. Hemoglobinopathies and ironhomeostasis
Carrier states associated with hemoglobin disorders and iron regulation phenotypes.
❖ HBA1, HBA2, HBB,HFE, HFE2, TFR2
6. Coagulation and platelet functiondisorders
Genes associated with bleeding risk due to coagulation factor deficiency or platelet receptor disorders.
❖ F11, F8, F9, GP1BA,GP1BB, GP9, ITGA2B, ITGB3
7.Primary immunodeficiency and immune dysregulation
Genes linked toSCID/CID, phagocyte disorders, immune regulation, and related syndromic immunodeficiencies.
❖ ADA, BTK, CD40LG,CIITA, CYBA, CYBB, DCLRE1C, FOXP3, HAX1, IL2RG, LYST, MEFV, RAG1, RAG2, SAMHD1,VPS45, WAS
8.Neuromuscular disorders (muscular dystrophy/myopathy, congenital myasthenic syndromes, motor neuron disease)
Genes associatedwith dystrophinopathies, limb-girdle muscular dystrophies, CMS, congenital myopathies, and related neuromuscular phenotypes.
❖ CAPN3, CHRNE, CHRNG,DMD, DYSF, FHL1, FKRP, FKTN, GLE1, GNE, LAMA2, MTM1, NDRG1, NEB, PFKM, POMT1,POMT2, PYGM, RAPSN, SGCA, SGCB, SGCD, SGCG, SMN1, TAZ, UBA1, EMD
9. Neurodevelopmental and neurodegenerative disorders (including X-linked syndromic conditions)
Genes associated with neurodevelopment disorders, leukodystrophies, neurodegeneration, and syndromic neurologic phenotypes relevant to reproductive risk.
❖ ADGRG1, AFF2, AIFM1,ALG13, ARX, ATRX, ATP7A, DCX, ELP1, EXOSC3, FMR1, FXN, GJB1, HCFC1, HPRT1,L1CAM, MECP2, MID1, NTRK1, PLA2G6, PLP1, PRPS1, SEPSECS, SLC12A6, SLC6A8,TECPR2, TH, VPS13A, VRK1, ZFYVE26, ZIC3
10. Ciliopathies and motile cilia disorders (including PCD and related syndromes)
Genes associatedwith Bardet–Biedl/ALMS spectrum, Joubert-related disorders, and primary ciliarydyskinesia pathways
❖ ALMS1, BBS1, BBS10,BBS12, BBS2, CCDC103, CCDC151, CCDC39, CEP290, DNAH5, DNAI1, DNAI2, DNAL1,HYLS1, PKHD1, TMEM216, VPS13B
11.Hearing loss, retinal dystrophy, and other sensory disorders
Genes associatedwith syndromic/non syndromic hearing loss, inherited retinal degenerations ,albinism-related phenotypes, and developmental eye disorders.
❖ CDH23, CERKL, CHM,CLRN1, CNGB3, CYP1B1, DHDDS, EYS, FAM161A, GJB2, GJB6, LCA5, LOXHD1, MYO7A,OPA3, OTOF, PCDH15, RDH12, RPE65, RP2, RPGR, RS1, SLC26A4, SLC4A11, TYR, USH1C,USH2A, VSX2
12. Renal tubulopathies, nephroticsyndrome, and nephrolithiasis-related disorders
Genes associatedwith nephrotic syndrome, salt/water handling disorders, and inherited stone disease.
❖ AGXT, AQP2,ATP6V1B1, AVPR2, BSND, CLCN5, GRHPR, HOGA1, NPHS1, NPHS2, OCRL, SLC12A3
13. Endocrine, steroidogenesis, and ion-channel disorders relevant to reproductive risk
Genes associatedwith CAH/steroid biosynthesis, pituitary development disorders, and ion-channel mediated endocrine disease.
❖ ABCC8, AR, CYP11B1,CYP11B2, CYP17A1, CYP19A1, CYP21A2, EIF2AK3, HSD3B2, KCNJ11, LHX3, NR0B1,PROP1, STAR
14. Skeletal dysplasia, basementmembrane/collagen disorders, and skin barrier disorders
Genes associated with skeletal dysplasias, Alport spectrum, epidermolysis bullosa/skin barrier disorders, and related connective tissue phenotypes relevant in carrierscreening.
❖ALPL, CLCN7,COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CTSK, EDA, EVC, EVC2, EXT1, EXT2,LAMA3, LAMB3, LAMC2, LIFR, MESP2, RAB23, SLC26A2, TCIRG1, TGM1, TNXB
15. Genome stability, telomere biology, and bone marrow failure syndromes
Genes associated with chromosomal instability, DNA repair disorders, telomere biology disorders ,and related marrow failure syndromes.
❖ ATM, BLM, DKC1,ERCC8, ESCO2, FANCA, FANCB, FANCC, FANCG, NBN, RBBP8, RINT1, RTEL1, SBDS,SMARCAL1, WRN, XPA, XPC
16. Respiratory, hepatobiliary, andgastrointestinal disorders (including major carrier conditions)
Genes associatedwith high-impact carrier conditions commonly included in expanded carrierscreening.
❖ ATP7B, CFTR,SERPINA1, SLC26A3, SLC39A4, TTC37
17. Organelle biogenesis and platelet storage pool syndromes
Genes associatedwith Hermansky–Pudlak spectrum and related platelet/pigment organelledisorders.
❖ HPS1, HPS3
Parameter Description
Genes Analyzed 333 (Female)/ 281 (Male) Carrier Screening-related genes.
Technology Platform Illumina NGS (Hybrid-Capture Target Enrichment).
Coverage Metrics >98%bases at ≥20× read depth.
Variant TypesDetected SNVs and small indels (≤20 bp) within coding exons ±10 bp intronic boundaries.
Reference Genome GRCh38/hg38.
BioinformaticsPipeline SeqOne™,ACMG/AMP compliant.
Confirmatory Testing Sanger sequencing or orthogonal method as indicated.
Turnaround Time ~10 calendar days.
Quality Metrics Read quality≥Q30; allelic balance ≥0.3; minimum coverage 20×.
❖ Identifies carrier status for autosomal recessive and X-linked conditions that may not be apparent from personal or family history, supporting pan-ethnic reproductive risk assessment.
❖ Clarifies whether a couple is at increased risk for having an affected child by enabling:
➢ Partner testing when one individual is a carrier of an autosomal recessive condition.
➢ Identification of X-linked carrier status in the female panel, which can inform risk to male offspring and guide targeted follow-up.
➢ Supports counseling on residual risk (a negative result reduces risk but does not eliminate it), particularly for conditions with complex variant types or technical limitations.
❖ Enables gene and condition-specific follow-up when a carrier result is identified ,including:
➢ Reflex or confirmatory testing where needed (e.g., targeted Sanger/MLPA/ddPCR/CNV methods depending on the gene/variant type).
➢ Targeted evaluation when results suggest possible personal health implications(e.g., certain X-linked conditions or heterozygous states with potential clinical relevance), with appropriate clinical correlation and referral.
❖ Provides information that can be used to support reproductive options, including:
➢ Preconception planning (timing, partner testing, and genetic counseling).
➢ Prenatal diagnostic testing when indicated.
➢ Preimplantation genetic testing (PGT) in the setting ofIVF for couples at increased risk.
Use of donor gametes or other reproductive alternatives when desired.
4. Cascade Testing and Family Risk Clarification
❖ Facilitates cascade carrier testing for relatives when a pathogenic/likely pathogenic variantis identified, particularly in families with:
➢ A previously affected child
➢ Known familialpathogenic variants
➢ Consanguinity or multiple affectedrelatives
5. Programmatic Value to Clinical Workflows
❖ Reduces the likelihood of missed risk due to incomplete or uncertain family history and supports consistent, scalable screening protocols.
❖ Provides structured ,reportable results that integrate into genetic counseling workflows ,including clear documentation of inheritance, partner-testing recommendations ,and residual-risk statements.
Comprehensive carrier screening provides clinically actionable information that integrates into obstetrics/gynecology, maternal–fetal medicine, reproductive endocrinology and infertility (REI), primary care, pediatrics, and medical genetics/genetic counseling workflows. Results directly inform reproductive risk assessment ,partner testing strategies, counseling on residual risk, and selection of appropriate confirmatory and reproductive follow-up options.
❖ Couple-level risk assessment (e.g., both partners carrying pathogenic variants in the same autosomal recessive gene).
❖ X-linked risk clarification in the female panel, where carrier status may affect risk to male offspring and guide targeted counseling and follow-up.
❖ Clear communication of residual risk after negative results, including recognition that some genes/variant classes may require specialized methods beyond standardsequencing (e.g., repeat expansions, certain CNVs, complex loci).
Support targeted partner testing when a carrier result is identified, enabling escalation from individual screening to couple-based reproductive risk determination.Results also enable:
❖ Cascade carrier testing for relatives when a familial pathogenic variant is identified, particularly when there is a history of affected children or known family variants.
❖ Risk-appropriate counseling on inheritancepatterns (autosomal recessive vs X-linked) and the practical implications forreproductive planning.
Use results to guide next steps in clinical care, including:
❖ Referral to genetic counseling for interpretation, residual-risk discussion, and planning.
❖ Selection of confirmatory/reflex testing when indicated (e.g., CNV analysis or orthogonal confirmation depending on gene/variant type).
❖ Discussion of available reproductive options for at-risk couples, which may include prenatal diagnostic testing, preimplantation genetic testing (PGT) with IVF,or other reproductive alternatives based on patient preference and clinical context.
Carrier screeninghas become a core component of precision reproductive care by identifying pathogenic/likely pathogenic variants associated with autosomal recessive and X-linked inherited conditions that may not be suspected from personal or family history.When integrated with genetic counseling and appropriate clinical context comprehensive carrier screening supports accurate assessment of couple level reproductivecouple-levelreproductive risk, informed decision-making, and timely follow-up.
The PreCheckHealth Services Comprehensive Carrier Screening Panel is a germline ,targeted exome assay designed to provide broad, pan-ethnic assessment of medically significant heritable conditions. Offered as coordinated male and female panel options, with the female panel including X-chromosome genes and the male panel focusing on autosomal genes. The test supports efficient partner testing workflows, clear interpretation of inheritance patterns, and structured reporting that includes residual risk considerations.
By enabling identification of at-risk couples and facilitating appropriate downstream options, such as targeted partner testing, confirmatory testing when indicated ,prenatal diagnostic pathways, and preimplantation genetic testing (PGT) where appropriate. This approach strengthens reproductive planning and helps reduce the likelihood of unexpected affected pregnancies. The result is improved consistency and equity in screening across diverse populations, with actionable information that supports patients, families, and care teams.
The PreCheck HealthServices Comprehensive Carrier Screening Panel is designed to detect single-nucleotide variants (SNVs) and small insertions and deletions in 333genes (Females) / 281 genes (Males) associated with broad range of autosomal recessive and X-linked inherited conditions relevant to reproductive risk assessment. Targeted regions for this panel include the coding exons and 10 bpintronic sequences immediately to the exon-intron boundary of each coding exonin each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology. Data is aligned using the human genome buildGRCh38. Variant interpretation is performed according to current AmericanCollege of Medical Genetics and Genomics (ACMG) professional guidelines for the interpretation of germline sequence variants using SeqOne Pipeline.
ABCC8, ABCD1, ACAD9,ACADM, ACADVL, ACAT1, ACOX1, ADA, ADGRG1, AFF2, AGA, AGL, AGXT, AIFM1, ALDH3A2,ALDOB, ALG13, ALG6, ALMS1, ALPL, AMT, AQP2, AR, ARG1, ARSA, ARSB, ARX, ASL,ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, AVPR2, BBS1, BBS10, BBS12,BBS2, BCHE, BCKDHA, BCKDHB, BLM, BSND, BTD, BTK, CAPN3, CBS, CCDC103, CCDC151,CCDC39, CD40LG, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CHRNG, CIITA, CLCN5,CLCN7, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5,COL7A1, CPS1, CPT1A, CPT2, CTNS, CTSK, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1,CYP19A1, CYP1B1, CYP21A2, CYP27A1, DBT, DCLRE1C, DCX, DHCR7, DHDDS, DKC1, DLD,DMD, DNAH5, DNAI1, DNAI2, DNAL1, DYSF, EDA, EIF2AK3, ELP1, EMD, ERCC8, ESCO2,ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXT2, EYS, F11, F8, F9, FAH,FAM161A, FANCA, FANCB, FANCC, FANCG, FH, FHL1, FKRP, FKTN, FMR1, FOXP3, FXN,G6PC, G6PD, GAA, GALC, GALK1, GALNS, GALT, GBA, GBE1, GCDH, GFM1, GJB1, GJB2,GJB6, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GP1BA, GP1BB, GP9, GRHPR,GUSB, HAX1, HBA1, HBA2, HBB, HCFC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HLCS,HOGA1, HPRT1, HPS1, HPS3, HSD17B10, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA,IL2RG, ITGA2B, ITGB3, KCNJ11, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LCA5, LDLRAP1,LHX3, LIFR, LIPA, LOXHD1, LPL, LYST, MAN2B1, MCCC1, MCCC2, MCOLN1, MECP2, MEFV,MESP2, MFSD8, MID1, MMAA, MMAB, MMACHC, MPV17, MTHFR, MTM1, MTTP, MUT, MYO7A,NAGLU, NAGS, NBN, NDRG1, NDUFAF5, NDUFS6, NEB, NPC1, NPC2, NPHS1, NPHS2, NR0B1,NTRK1, OAT, OCRL, OPA3, OTC, OTOF, PAH, PC, PCCA, PCCB, PCDH15, PDHA1, PDHB,PEX1, PEX10, PEX12, PEX2, PEX6, PEX7, PFKM, PKHD1, PKLR, PLA2G6, PLP1, PMM2,POMT1, POMT2, PPT1, PROP1, PRPS1, PTS, PYGM, RAB23, RAG1, RAG2, RAPSN, RARS2,RBBP8, RDH12, RINT1, RP2, RPE65, RPGR, RS1, RTEL1, SAMHD1, SBDS, SEPSECS,SERPINA1, SGCA, SGCB, SGCD, SGCG, SGSH, SLC12A3, SLC12A6, SLC17A5, SLC22A5,SLC25A13, SLC25A15, SLC26A2, SLC26A3, SLC26A4, SLC37A4, SLC39A4, SLC4A11,SLC6A8, SLC7A7, SMARCAL1, SMN1, SMPD1, STAR, SUMF1, TAT, TAZ, TCIRG1, TECPR2, TFR2,TGM1, TH, TMEM216, TNXB, TPP1, TRMU, TSFM, TTC37, TTPA, TYR, UBA1, UGT1A1,USH1C, USH2A, VPS13A, VPS13B, VPS45, VRK1, VSX2, WAS, WRN, XPA, XPC, ZFYVE26,ZIC3
ABCC8, ACAD9, ACADM,ACADVL, ACAT1, ACOX1, ADA, ADGRG1, AGA, AGL, AGXT, ALDH3A2, ALDOB, ALG6, ALMS1,ALPL, AMT, AQP2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7B,BBS1, BBS10, BBS12, BBS2, BCHE, BCKDHA, BCKDHB, BLM, BSND, BTD, CAPN3, CBS,CCDC103, CCDC151, CCDC39, CDH23, CEP290, CERKL, CFTR, CHRNE, CHRNG, CIITA,CLCN7, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL7A1,CPS1, CPT1A, CPT2, CTNS, CTSK, CYBA, CYP11B1, CYP11B2, CYP17A1, CYP19A1,CYP1B1, CYP21A2, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DNAH5, DNAI1, DNAI2,DNAL1, DYSF, EIF2AK3, ELP1, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2,EXOSC3, EXT2, EYS, F11, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FXN,G6PC, GAA, GALC, GALK1, GALNS, GALT, GBA, GBE1, GCDH, GFM1, GJB2, GJB6, GLB1,GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GP1BA, GP1BB, GP9, GRHPR, GUSB, HAX1,HBA1, HBA2, HBB, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HLCS, HOGA1, HPS1, HPS3,HSD17B4, HSD3B2, HYAL1, HYLS1, IDUA, ITGA2B, ITGB3, KCNJ11, LAMA2, LAMA3,LAMB3, LAMC2, LCA5, LDLRAP1, LHX3, LIFR, LIPA, LOXHD1, LPL, LYST, MAN2B1,MCCC1, MCCC2, MCOLN1, MEFV, MESP2, MFSD8, MMAA, MMAB, MMACHC, MPV17, MTHFR,MTTP, MUT, MYO7A, NAGLU, NAGS, NBN, NDRG1, NDUFAF5, NDUFS6, NEB, NPC1, NPC2,NPHS1, NPHS2, NTRK1, OAT, OPA3, OTOF, PAH, PC, PCCA, PCCB, PCDH15, PDHB, PEX1,PEX10, PEX12, PEX2, PEX6, PEX7, PFKM, PKHD1, PKLR, PLA2G6, PMM2, POMT1, POMT2,PPT1, PROP1, PTS, PYGM, RAB23, RAG1, RAG2, RAPSN, RARS2, RBBP8, RDH12, RINT1,RPE65, RTEL1, SAMHD1, SBDS, SEPSECS, SERPINA1, SGCA, SGCB, SGCD, SGCG, SGSH,SLC12A3, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC26A3,SLC26A4, SLC37A4, SLC39A4, SLC4A11, SLC7A7, SMARCAL1, SMN1, SMPD1, STAR, SUMF1,TAT, TCIRG1, TECPR2, TFR2, TGM1, TH, TMEM216, TNXB, TPP1, TRMU, TSFM, TTC37,TTPA, TYR, UGT1A1, USH1C, USH2A, VPS13A, VPS13B, VPS45, VRK1, VSX2, WRN, XPA,XPC, ZFYVE26
This test aims to detect clinically relevant variants within the targeted coding regions of the genes evaluated. Pathogenic and likely pathogenic variants identified by this assay should be confirmed by an orthogonal method when clinically indicated.Unless otherwise requested, variants classified as benign, likely benign, or of uncertain significance (VUS) are not routinely reported for carrier screening.
Target enrichment is limited to the regions included in the assay design. Certain genomic contexts, such as homopolymer tracts, highly repetitive regions, and regions outside the targeted coding exons and limited flanking intronic sequence—may not bead equately captured or may have reduced sequencing performance. This analysis does not evaluate variants in genomic regions that are not targeted (e.g., deepintronic, promoter/enhancer, long repeat expansion regions, or mitochondrialDNA, unless explicitly included).
This assay is not designed to detect complex genomic alterations, including large deletions/duplications (CNVs), balanced rearrangements, repeat expansions ,low-level mosaicism, or chromosomal aneuploidy, unless separately validated and specifically stated as part of the test design. As with all genetic tests, some clinically relevant variants may be undetectable due to technical limitations ,sequence context, or regions not included in the assay.
Variant interpretation is based on current scientific and clinical evidence and follows current ACMG/AMP guidelines for germline sequence variant classification.Variant classifications may change over time as new evidence emerges and as professional standards evolve; qualified health care providers should be aware that variant reclassification can occur.
Pre-analytic and analytic factors can affect test performance. DNA quantity and quality may be influenced by specimen collection and handling, specimen type, and the presence of inhibitory substances. PCR inhibitors, contaminating DNA, and nucleases may adversely affect results. A negative result reduces, but does not eliminate—carrier risk ,and residual risk depends on assay coverage, variant types assessed, and the genes included in the panel.
This laboratory-developed test (LDT) was developed, and its performance characteristics were determined by PreCheck Health Services, Inc. This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID:9101993), which is certified under the Clinical Laboratory ImprovementAmendments of 1988 (CLIA) as qualified to perform high complexity testing.
This assay has not been cleared or approved by the U.S. Food and Drug Administration (FDA).Clearance or approval by the FDA is not required for the clinical use of this analytically and clinically validated laboratory-developed test. This assay has been developed for clinical purposes, and it should not be regarded as investigational or for research.
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