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NBGS Premium Panel v1.0

NBGS Premium Panel v1.0

Catalog Number:
#1001991
#1001992
NBGS Premium Panel v1.0 targets 311 clinically significant and actionable hereditary conditions across 282 genes, covering a broad scope of multisystem disorders, including metabolic disorders, endocrine disorders, hematologic disorders, neurological disorders, and immune disorders etc. Probe design targets multiple variants including SNP, Indel and CNV etc., which spans a 1.33 Mb region of human genome.
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Performance

Basic QC Performance on Dual Platforms

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Figure 1. Basic QC performance of NBGS Premium Panel v1.0 on dual platforms. A. Mappability, on-target rate, and target coverage; B. GC bias. Prelibraries were prepared from 100 ng healthy human gDNA using NadPrep EZ DNA Library Preparation Module v2 with NadPrep Universal Stubby Adapter (UDI) Module, followed by hybrid capture using NBGS Premium Panel v1.0 with NadPrep Hybrid Capture Reagents. The BWA was used for alignment of raw reads to the reference genome and on-target rate was calculated by the number of reads. Sequencing were performed on NovaSeq 6000 (PE150) and DNBSEQ-T7 (PE150).

Multiple Variants Analysis


Table 1. Variant analysis results of DMD gDNA reference standards through targeted capture using NBGS Premium Panel v1.0.

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Note: Samples are derived from DMD gDNA Reference Standards (GeneWell). HMF301-3 correspond to GW-HMF301-3, and HMF601-3 correspond to GW-HMF601-3; with an initial input of 50 ng.

Table 2. Variant analysis results of thalassemia gDNA reference standards through targeted capture using NBGS Premium Panel v1.0.

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Note: Samples are derived from Thalassemia gDNA Reference Standards (GeneWell). TGTS001/03/09/23 correspond to GW-TGTS001/03/09/23; with an initial input of 50 ng.

Disorder and Gene List

Classification of Disorders No. of Disorders Gene
Amino acid metabolic disorder 39 ACAD8, ACADSB, ACAT1, AHCY, AMT, ARG1, ASS1, AUH, BCKDHA, BCKDHB, CBS, CTNS, DBT, FAH, GCDH, GCH1, GLDC, HMGCL, HPD, IVD, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MTHFR, MTR, MTRR, OCRL, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC25A13, SLC3A1, SLC7A7, SLC7A9, TAT
Lysosomal storage disorder 16 ARSA, CYP27A1, GALC, GALNS, GBA, GLA, GLB1, HEXA, IDS, IDUA, NAGLU, NPC1, NPC2, SGSH, SMPD1
Fatty acid metabolic disorder 16 ACADS, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, MMAA, MMAB, MMACHC, MMADHC, MMUT, SLC22A5, SLC25A20
Carbohydrate metabolic disorder 8 AGL, G6PC1, GAA, GALE, GALK1, GALT, PMM2, SLC37A4
Vitamin metabolic disorder 4 BTD, CYP27B1, HLCS, PHEX
Minera metabolic disorder 6 ATP7A, ATP7B, HFE, SLC12A3, VDR
Enzymopathy 1 PEX1
Organic acid metabolic disorder 4 ACADM, ACADVL, ASL, CPS1
Lipid metabolic disorder 2 DHCR7, LDLR
Endocrine Disorder 17 ABCC8, CHD7, CYP11B1, CYP21A2, DUOX2, FGFR1, INS, KCNJ11, PAX8, SLC5A5, SRD5A2, TG, TPO, TSHR, WFS1
Hematologic Disorder 24 ADAMTS13, ANK1, C3, CFH, CFI, ELANE, EPB42, F8, F9, FANCA, FANCC, FANCG, G6PC3, G6PD, HAX1, HBA1, HBA2, HBB, PKLR, PROC, PROS1, RPS19, SPTB, WAS
Musculoskeletal Disorder 11 ALPL, COL11A2, COL1A1, COL1A2, DMD, LAMA2, LMNA, MYH7, RYR1
Neurological Disorder 24 ABCD1, ALDH3A2, ALDH7A1, DDC, GDAP1, GJB1, MECP2, MFN2, MPZ, NADK2, PCDH19, PMP22, SCN1A, SLC2A1, SMN1, SMN2, TSC1, TSC2
Genitourinary Disorder 12 ABCB11, ABCB4, ATP8B1, AVPR2, CLCN5, LAMB2, NPHP1, NPHS1, PKD1, PKD2, PKHD1
Immune Disorder 22 ADA, ATM, BTK, C3, CD40LG, CFH, CFI, CYBA, CYBB, DOCK8, IL2RG, MEFV, NCF1, NCF2, PRF1, RAG1, SH2D1A, STX11, STXBP2, UNC13D, WAS
Sensory Processing Disorder 23 CDH23, CEACAM16, CEP290, GJB2, GJB3, GPR143, MYO15A, MYO6, MYO7A, OCA2, OTOF, PAX3, PAX6, RPE65, SLC26A4, SLC45A2, SOX10, TECTA, TMC1, TYR, USH1C, USH2A
Cardiovascular Disorder 14 ACVRL1, BMPR2, ENG, KCNE1, KCNH2, KCNQ1, LMNA, MYBPC3, MYH7, SCN5A, SCNN1A, SCNN1B
Dermatological diseases 13 COL17A1, COL7A1, DSP, HPS1, HPS3, HPS4, HPS6, KRT14, KRT5, LAMA3, LAMB3, LAMC2, LYST
Syndrome 9 CEP290, COL11A1, COL2A1, COL4A3, COL4A4, COL4A5, FBN1, OFD1, SALL1
Cancer Risk Disorder 12 APC, BMPR1A, BRCA1, BRCA2, MUTYH, NF1, NF2, RB1, SDHB, SDHD, SMAD4, WT1
Developmental Disorder 19 BRAF, ELN, EYA1, FGFR2, FGFR3, KRAS, NRAS, PTPN11, RAF1, SOS1, TBX1, TCOF1, VPS13B, WT1
Respiratory Disease 15 CCDC114, CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DRC1, HYDIN, LRRC6

For research use only. Not for use in diagnostic procedures.

Catalog# Cap Color Item Volume Package/Storage
1001991

NBGS Premium Panel v1.0, 96 rxn 415 μL -25~-15℃
1001992

NBGS Premium Panel v1.0, 16 rxn 70 μL -25~-15℃

Can more comprehensive probe coverage versions be provided for hemoglobin-encoding genes and DMD genes?
Yes. If customers require greater coverage depth for hemoglobin-encoding genes or DMD gene, the probes for the corresponding genes in NBGS Premium Panel v1.0 can be upgraded to the more comprehensive panels in the HGBP Panel v1.0 (Cat #1001961/1001962) and DMD Research Panel v1.0 (Cat #1001891/1001892) to achieve more complete target coverage.
Do NBGS series panels support customization?

Yes. The NBGS series offers four standard versions—NBGS Mini Panel (39 genes), NBGS Core Panel (83 genes), NBGS Plus Panel (153 genes), and NBGS Premium Panel v1.0 (282 genes)—which can be further personalized according to client requirements. Customization will be based on evaluation of target regions using authoritative variant databases and supplemented with probes at appropriate loci to ensure scientific validity and accuracy of coverage.

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Is the NBGS bioinformatics analysis software customizable?
Yes. The NBGS bioinformatics software can be tailored to customer-specific panels; clients should provide sequencing data for the customized panel to rebuild analysis baselines.
Product Catalog#
NBGS Premium Panel v1.0, 96 rxn 1001991
NBGS Premium Panel v1.0, 16 rxn 1001992

Product Sheet

Application Note

Demo Data

NBGS_Premium_Panel_v1.0_GW-HMF301_Illimina
For the DMD gDNA Reference Standard IX (GeneWell, GW-HMF301), pre-libraries were prepared using the NadPrep EZ DNA Library Preparation Kit, followed by hybrid capture using NBGS Premium Panel v1.0 with NadPrep Hybrid Capture Reagents.
Download
NBGS_Premium_Panel_v1.0_GW-HMF302_Illumina
For the DMD gDNA Reference Standard X (GeneWell, GW-HMF302), pre-libraries were prepared using the NadPrep EZ DNA Library Preparation Kit, followed by hybrid capture using NBGS Premium Panel v1.0 with NadPrep Hybrid Capture Reagents.
Download
NBGS_Premium_Panel_v1.0_GW-HMF303_Illumina
For the DMD gDNA Reference Standard XI (GeneWell, GW-HMF303), pre-libraries were prepared using the NadPrep EZ DNA Library Preparation Kit, followed by hybrid capture using NBGS Premium Panel v1.0 with NadPrep Hybrid Capture Reagents.
Download
NBGS_Premium_Panel_v1.0_GW-HMF301_MGI
For the DMD gDNA Reference Standard IX (GeneWell, GW-HMF301), pre-libraries were prepared using the NadPrep EZ DNA Library Preparation Kit, followed by hybrid capture using NBGS Premium Panel v1.0 with NadPrep Hybrid Capture Reagents.
Download
NBGS_Premium_Panel_v1.0_GW-HMF302_MGI
For the DMD gDNA Reference Standard X (GeneWell, GW-HMF302), pre-libraries were prepared using the NadPrep EZ DNA Library Preparation Kit, followed by hybrid capture using NBGS Premium Panel v1.0 with NadPrep Hybrid Capture Reagents.
Download
NBGS_Premium_Panel_v1.0_GW-HMF303_MGI
For the DMD gDNA Reference Standard XI (GeneWell, GW-HMF303), pre-libraries were prepared using the NadPrep EZ DNA Library Preparation Kit, followed by hybrid capture using NBGS Premium Panel v1.0 with NadPrep Hybrid Capture Reagents.
Download
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