Focused-Panels – cost-effective and fast genetic analyses for well characterized clinical features

Informationen

Our collection of Focused-Panels includes 20 gene sets for the genetic clarification of well-defined clinical diagnoses.

Each Focused-Panel contains a specific selection of genes which are characteristic for the respective disorder, which is why the focus panels present an economic alternative to the large diagnostic panels at CeGaT. The genes of each respective Focused-Panel are sequenced and interpreted in parallel, allowing for very fast processing times.

In contrast to the large diagnostic panels, sequencing of genes which are relevant for differential diagnoses is not performed. Therefore, subsequent extension of the diagnosis is not possible.

In case you have any questions, please do not hesitate to contact our diagnostics support team.

Material and turnaround time
  • 3-5 ml EDTA blood or 5 µg genomic DNA
  • Order form with declaration of consent according to German Gendiagnostikgesetz (GenDG)
  • Turnaround time: 4-6 weeks

Afibrinogenemia / dysfibrinogenemia (3 genes, SSP01)

FGA, FGB, FGG

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Variable immunodeficiency (CVID) (13 genes, SSP02)

CD19, CD81, CR2, CXCR4, ICOS, LRBA, MS4A1, NFKB1, NFKB2, PRKCD, TNFRSF13B, TNFRSF13C, TNFSF12

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Tuberous sclerosis (2 genes, SSP03)

TSC1, TSC2

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Hereditary breast and ovarian cancer (small) (5 genes, SSP04)

BRCA1, BRCA2, CHEK2, RAD51C, PALB2

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Hereditary breast and ovarian cancer (large) (11 genes, SSP05)

ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

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Lynch syndrome (5 genes, SSP06)

EPCAM, MLH1, MSH2, MSH6, PMS2

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Hereditary hemorrhagic telangiectasia (HHT) (5 genes, SSP07)

ACVRL1, ENG, GDF2, RASA1, SMAD4

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Neurofibromatosis (3 genes, SSP08)

NF1, NF2, SPRED1

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Hyperekplexia (3 genes, SSP09)

GLRA1, GLRB, SLC6A5

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Holoprosencephaly (9 genes, SSP10)

CDON, FGFR1, GLI2, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2

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Refsum disease (8 genes, SSP11)

AMACR, PEX1, PEX2, PEX26, PEX3, PEX5, PEX7, PHYH

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Episodic ataxia (9 genes, SSP12)

ATP1A3, CACNA1A, CACNB4, FGF14, KCNA1, KCNQ2, SCN2A, SLC1A3, SLC2A1

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Dopa-responsive dystonia (3 genes, SSP13)

GCH1, TH, SPR

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Neuropathic pain syndrome (4 genes, SSP14)

SCN9A, SCN10A, SCN11A, TRPA1

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Malignant hyperthermia (3 genes, SSP15)

RYR1, CACNA1S, STAC3

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Familial intrahepatic cholestasis (4 genes, SSP16)

ABCB11, ABCB4, ATP8B1, MYO5B

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Maple syrup urine disease (4 genes, SSP17)

BCKDHA, BCKDHB, DBT, DLD

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MODY syndrome (12 genes, SSP18)

ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1

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Kabuki syndrome (5 genes, SSP19)

KDM6A, KMT2D, CHD7, EYA1, IRF6

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Craniosynostosis (7 genes, SSP20)

FGFR1, FGFR2, FGFR3, TCF12, TWIST1, ERF, MSX2

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