Staber & Kollegen GmbH MVZ für Humangenetik Regensburg

Official name: Dr. Staber & Kollegen GmbH MVZ für Humangenetik Regensburg

168 capabilities Accredited since September 2026 Verified Oct 2026 One of 3,209 in Germany
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Details

Bischof-von-Henle-Straße 2a
Regensburg 93051 , Germany

Accreditation

Active DAkkS D-ML-13252-03-01
www.genetik-regensburg.de/ Prefer to enquire through us? Send an enquiry
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Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-13252-03-01

Status

Active

Since

22 September 2026

Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.

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Additional scope documents

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Test Capabilities (168)
Standard Reference Description Category
Arrhythmogene rechtsventrikuläre Arrhythmogene rechtsventrikuläre Biocompatibility (ISO 10993)
(NM_000038), BMPR1A (NM_000038), BMPR1A Biological / Microbiological
(NM_004329), CHEK2 (NM_004329), CHEK2 Biological / Microbiological
HBA2 HbA2 Chromatography (GC, HPLC)
APC APC Clinical Chemistry
C3 MYBPC3 Elemental Analysis
CAV3 CAV3 Elemental Analysis
Catecholaminerge polymorphe Catecholaminerge polymorphe Elemental Analysis
DSC2 DSC2 Elemental Analysis
DSG2 DSG2 Elemental Analysis
KCNE1 KCNE1 Elemental Analysis
KCNE2 KCNE2 Elemental Analysis
KCNH2 KCNH2 Elemental Analysis
KCNQ1 KCNQ1 Elemental Analysis
MYH7 MYH7 Elemental Analysis
PKP2 PKP2 Elemental Analysis
RYR2 RYR2 Elemental Analysis
SCN5A SCN5A Elemental Analysis
TGFBR2 TGFBR2 Elemental Analysis
TNNT2 TNNT2 Elemental Analysis
(HPF, hereditäre Fiebersyndrome; MEFV, ADA2, ELANE, IL1RN, IL36RN, LPIN2, MVK, NLRC4, NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TNFRSF1A ); SNV, CNV (HPF, hereditäre Fiebersyndrome; MEFV, ADA2, ELANE, IL1RN, IL36RN, LPIN2, MVK, NLRC4, NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TNFRSF1A ); SNV, CNV Molecular Diagnostics / PCR
(NM_000179), PALB2 (NM_000179), PALB2 Molecular Diagnostics / PCR
(NM_017763), SMAD4 (NM_017763), SMAD4 Molecular Diagnostics / PCR
(OMIM 601728), RAD51C (OMIM 601728), RAD51C Molecular Diagnostics / PCR
ATM ATM Molecular Diagnostics / PCR
ATP7B Panel; HFE, HJV, HAMP, FTL, TMPRSS6, ATP7B Molecular Diagnostics / PCR
Adenomatöse Polyposis Familiäre Adenomatöse Polyposis Molecular Diagnostics / PCR
Aortenaneurysma (ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 ); SNV, CNV Aortenaneurysma (ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 ); SNV, CNV Molecular Diagnostics / PCR
Azoospermie (Azoospermiefaktor (AZF )-Deletion) Azoospermie (Azoospermiefaktor (AZF )-Deletion) Molecular Diagnostics / PCR
BAG3 BAG3 Molecular Diagnostics / PCR
BRAF BRAF Molecular Diagnostics / PCR
BRCA-Diagnostik vor PARP- Inhibitoren-Therapie (BRCA1 , BRCA2 ); SNV, CNV BRCA-Diagnostik vor PARP- Inhibitoren-Therapie (BRCA1 , BRCA2 ); SNV, CNV Molecular Diagnostics / PCR
BRCA1 BRCA1 Molecular Diagnostics / PCR
BRCA1/BRCA2 BRCA1/BRCA2: ID001 Molecular Diagnostics / PCR
BRIP1 BRIP1 Molecular Diagnostics / PCR
Behçet, Morbus (HLA-B51) Behçet, Morbus (HLA-B51) Molecular Diagnostics / PCR
Brugada-Syndrom (SCN5A, CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, SCN1B, SCN3B, TRPM4 ); SNV, CNV Brugada-Syndrom (SCN5A, CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, SCN1B, SCN3B, TRPM4 ); SNV, CNV Molecular Diagnostics / PCR
Brust- und Ovarialkarzinom, hereditär (HBOC; BRCA1 , BRCA2 , CHEK2 , PALB2 , RAD51C, TP53 ); SNV, CNV Brust- und Ovarialkarzinom, hereditär (HBOC; BRCA1 , BRCA2 , CHEK2 , PALB2 , RAD51C, TP53 ); SNV, CNV Molecular Diagnostics / PCR
Brust- und Ovarialkarzinom, hereditär, erweiterte Diagnostik (ATM , BARD1, BRIP1 , CDH1, PTEN, STK11, RAD51D, SMARCA4 ); SNV, CNV Brust- und Ovarialkarzinom, hereditär, erweiterte Diagnostik (ATM , BARD1, BRIP1 , CDH1, PTEN, STK11, RAD51D, SMARCA4 ); SNV, CNV Molecular Diagnostics / PCR
CDH1 CDH1 Molecular Diagnostics / PCR
CDK4 CDK4 Molecular Diagnostics / PCR
CDKN2A CDKN2A Molecular Diagnostics / PCR
CEL CEL Molecular Diagnostics / PCR
CFTR CFTR Molecular Diagnostics / PCR
COL1A1 COL1A1 Molecular Diagnostics / PCR
COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 Molecular Diagnostics / PCR
COL3A1 TGFBR1, TGFBR2, COL3A1 Molecular Diagnostics / PCR
CTRC CTRC Molecular Diagnostics / PCR
Cystische Fibrose (Mukoviszidose und CBAVD; CFTR ); SNV, CNV Cystische Fibrose (Mukoviszidose und CBAVD; CFTR ); SNV, CNV Molecular Diagnostics / PCR
DSP DSP Molecular Diagnostics / PCR
DiGeorge-Syndrom (Mikrodeletion 22q11.2, CATCH22) DiGeorge-Syndrom (Mikrodeletion 22q11.2, CATCH22) Molecular Diagnostics / PCR
Diagnostik (BRCA1, BRCA2, CDKN2A, PALB2, STK11, TP53, APC, ATM, CDC73, CHEK2, MLH1, MSH2, MSH6, PMS2, PTEN ); SNV, CNV Diagnostik (BRCA1, BRCA2, CDKN2A, PALB2, STK11, TP53, APC, ATM, CDC73, CHEK2, MLH1, MSH2, MSH6, PMS2, PTEN ); SNV, CNV Molecular Diagnostics / PCR
Diagnostik (BRCA2, ATM, BRCA1, CDH1, CHEK2, FANCA, HOXB13, PALB2 ); SNV, CNV Diagnostik (BRCA2, ATM, BRCA1, CDH1, CHEK2, FANCA, HOXB13, PALB2 ); SNV, CNV Molecular Diagnostics / PCR
Diagnostik (CDH1, APC, ATM, BMPR1A, BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53 ); SNV, CNV Diagnostik (CDH1, APC, ATM, BMPR1A, BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53 ); SNV, CNV Molecular Diagnostics / PCR
Diagnostik (FH, FLCN, MET, BAP1, CHEK2, DICER1, DIS3L2, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1 ); SNV, CNV Diagnostik (FH, FLCN, MET, BAP1, CHEK2, DICER1, DIS3L2, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1 ); SNV, CNV Molecular Diagnostics / PCR
EPCAM EPCAM Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, AEBP1, FKBP14, PLOD1, SLC39A13 ); SNV, CNV Ehlers-Danlos-Syndrom (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, AEBP1, FKBP14, PLOD1, SLC39A13 ); SNV, CNV Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom (seltene Formen inkl. Brittle-Cornea- Syndrom) (B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, DSE, PRDM5, ZNF469 ); SNV, CNV Ehlers-Danlos-Syndrom (seltene Formen inkl. Brittle-Cornea- Syndrom) (B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, DSE, PRDM5, ZNF469 ); SNV, CNV Molecular Diagnostics / PCR
FBN1 FBN1 Molecular Diagnostics / PCR
FLCN FLCN Molecular Diagnostics / PCR
Familiäre Hypercholesterinämie (LDLR, APOB, LDLRAP1, PCSK9 ); SNV, CNV Familiäre Hypercholesterinämie (LDLR, APOB, LDLRAP1, PCSK9 ); SNV, CNV Molecular Diagnostics / PCR
Familiäre juvenile Polyposis (FJP; BMPR1A , SMAD4 ); SNV, CNV Familiäre juvenile Polyposis (FJP; BMPR1A , SMAD4 ); SNV, CNV Molecular Diagnostics / PCR
Fragiles-X-Syndrom (FMR1 ) Fragiles-X-Syndrom (FMR1 ) Molecular Diagnostics / PCR
Fragiles-X-assoziiertes Tremor- Ataxie-Syndrom (FXTAS, FMR1 ) Fragiles-X-assoziiertes Tremor- Ataxie-Syndrom (FXTAS, FMR1 ) Molecular Diagnostics / PCR
GCK GCK Molecular Diagnostics / PCR
GLA GLA Molecular Diagnostics / PCR
GPC3 GPC3 Molecular Diagnostics / PCR
GPC4 GPC4 Molecular Diagnostics / PCR
GREM1 GREM1 Molecular Diagnostics / PCR
Gonadendysgenesie (SRY ) Gonadendysgenesie (SRY ) Molecular Diagnostics / PCR
HBA1 HBA1 Molecular Diagnostics / PCR
HBB HBB Molecular Diagnostics / PCR
HNF1A HNF1A Molecular Diagnostics / PCR
HNF1B MODY-Panel; GCK, HNF1A, PDX1, HNF1B Molecular Diagnostics / PCR
HNF4A HNF4A Molecular Diagnostics / PCR
Hereditäres Non-Polypöses Colon- Karzinom (HNPCC/ Lynch-Syndrom; MLH1 , PMS2 , MSH6 , MSH2 ); SNV, CNV Hereditäres Non-Polypöses Colon- Karzinom (HNPCC/ Lynch-Syndrom; MLH1 , PMS2 , MSH6 , MSH2 ); SNV, CNV Molecular Diagnostics / PCR
Hereditäres Periodisches Fieber Hereditäres Periodisches Fieber Molecular Diagnostics / PCR
Hypertrophe Kardiomyopathie (MYBPC3, MYH7, TNNI3, TNNT2, ACTC1, ACTN2, ALPK3, CSRP3, JPH2, MYL2, MYL3, PLN, TNNC1, TPM1 ); SNV, CNV Hypertrophe Kardiomyopathie (MYBPC3, MYH7, TNNI3, TNNT2, ACTC1, ACTN2, ALPK3, CSRP3, JPH2, MYL2, MYL3, PLN, TNNC1, TPM1 ); SNV, CNV Molecular Diagnostics / PCR
Hämoglobin-Genotypisierung (Thalassämie-alpha (HBA1 , HBA2 ) und Thalassämie-beta (HBB )) Hämoglobin-Genotypisierung (Thalassämie-alpha (HBA1 , HBA2 ) und Thalassämie-beta (HBB )) Molecular Diagnostics / PCR
INS INS Molecular Diagnostics / PCR
JUP JUP Molecular Diagnostics / PCR
JUP, TGFB3 JUP, TGFB3 Molecular Diagnostics / PCR
KCNJ2 KCNJ2 Molecular Diagnostics / PCR
KLF11 KLF11 Molecular Diagnostics / PCR
KRAS KRAS Molecular Diagnostics / PCR
Kardiodysplasie (ARVD; DSC2, DSG2, DSP, FLNC, JUP, PKP2, PLN, CDH2, CTNNA3, DES, TGFB3, TMEM43 ); SNV, CNV Kardiodysplasie (ARVD; DSC2, DSG2, DSP, FLNC, JUP, PKP2, PLN, CDH2, CTNNA3, DES, TGFB3, TMEM43 ); SNV, CNV Molecular Diagnostics / PCR
Kolonkarzinom (TP53 , CHEK2 , MUTYH , POLE , POLD1 , PTEN , STK11 ); SNV, CNV Kolonkarzinom (TP53 , CHEK2 , MUTYH , POLE , POLD1 , PTEN , STK11 ); SNV, CNV Molecular Diagnostics / PCR
Kolonkarzinom mit Polyposis (APC , BMPR1A , MUTYH , SMAD4 , GREM1 , MSH3 , NTHL1 , PTEN , POLD1 , POLE , STK11 ); SNV, CNV Kolonkarzinom mit Polyposis (APC , BMPR1A , MUTYH , SMAD4 , GREM1 , MSH3 , NTHL1 , PTEN , POLD1 , POLE , STK11 ); SNV, CNV Molecular Diagnostics / PCR
LDLR LDLR Molecular Diagnostics / PCR
LMNA LMNA Molecular Diagnostics / PCR
Li-Fraumeni-Syndrom / TPDS (TP53 , BAP1 , CHEK2 , POT1 ); SNV, CNV Li-Fraumeni-Syndrom / TPDS (TP53 , BAP1 , CHEK2 , POT1 ); SNV, CNV Molecular Diagnostics / PCR
Loeys-Dietz-Syndrom (TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, TGFB3 ); SNV, CNV Loeys-Dietz-Syndrom (TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, TGFB3 ); SNV, CNV Molecular Diagnostics / PCR
Long-QT-Syndrom (KCNH2, KCNQ1, SCN5A, AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNJ2, KCNJ5, SCN4B, SNTA1, TRDN ); SNV, CNV Long-QT-Syndrom (KCNH2, KCNQ1, SCN5A, AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNJ2, KCNJ5, SCN4B, SNTA1, TRDN ); SNV, CNV Molecular Diagnostics / PCR
MEN1 MEN1 Molecular Diagnostics / PCR
MET MET Molecular Diagnostics / PCR
MLH1 MLH1 Molecular Diagnostics / PCR
MLPA für STK11 MLPA für STK11 Molecular Diagnostics / PCR
MSH2 MSH2 Molecular Diagnostics / PCR
MSH6 MSH6 Molecular Diagnostics / PCR
MUTYH MUTYH Molecular Diagnostics / PCR
Magenkarzinom (CDH1 , BMPR1A , CHEK2 , MLH1 , MSH2 , MSH6 , PMS2 , PTEN, SMAD4 , STK11 , TP53 ); SNV, CNV Magenkarzinom (CDH1 , BMPR1A , CHEK2 , MLH1 , MSH2 , MSH6 , PMS2 , PTEN, SMAD4 , STK11 , TP53 ); SNV, CNV Molecular Diagnostics / PCR
Magenkarzinom, erweiterte Magenkarzinom, erweiterte Molecular Diagnostics / PCR
Marfan-Syndrom (FBN1, TGFBR1, TGFBR2 ); SNV, CNV Marfan-Syndrom (FBN1, TGFBR1, TGFBR2 ); SNV, CNV Molecular Diagnostics / PCR
Maturity Onset Diabetes of the Maturity-onset diabetes of the Molecular Diagnostics / PCR
Mittelmeerfieber, hereditär (MEFV ); SNV, CNV Mittelmeerfieber, hereditär (MEFV ); SNV, CNV Molecular Diagnostics / PCR
Morbus Wilson (ATP7B ); SNV, CNV Morbus Wilson (ATP7B ); SNV, CNV Molecular Diagnostics / PCR
NEUROD1 NEUROD1 Molecular Diagnostics / PCR
NF1 NF1 Molecular Diagnostics / PCR
NF1, DD Legius-Syndrom (NF1, SPRED1 ); SNV, CNV NF1, DD Legius-Syndrom (NF1, SPRED1 ); SNV, CNV Molecular Diagnostics / PCR
NSD1 NSD1 Molecular Diagnostics / PCR
Narkolepsie (Haplotyp DQB1*06:02, HLA-DR15/DQ6) Narkolepsie (Haplotyp DQB1*06:02, HLA-DR15/DQ6) Molecular Diagnostics / PCR
Neurofibromatose Typ 1 (NF1 ); SNV, CNV Neurofibromatose Typ 1 (NF1 ); SNV, CNV Molecular Diagnostics / PCR
Nierenkarzinom (FH , FLCN , MET , CHEK2 , PTEN , SMARCB1 , TP53 , TSC1 , TSC2 , VHL ); SNV, CNV Nierenkarzinom (FH , FLCN , MET , CHEK2 , PTEN , SMARCB1 , TP53 , TSC1 , TSC2 , VHL ); SNV, CNV Molecular Diagnostics / PCR
Nierenkarzinom, erweiterte Nierenkarzinom, erweiterte Molecular Diagnostics / PCR
Non-Compaction Kardiomyopathie (ACTC1, MYH7, PRDM16, TAZ (TAFAZZIN), TPM1, ACTN2, DTNA, MIB1, LDB3, MYBPC3, TNNT2 ); SNV, CNV Non-Compaction Kardiomyopathie (ACTC1, MYH7, PRDM16, TAZ (TAFAZZIN), TPM1, ACTN2, DTNA, MIB1, LDB3, MYBPC3, TNNT2 ); SNV, CNV Molecular Diagnostics / PCR
Noonan-Syndrom (Stufe I: PTPN11 , Stufe II: BRAF, KRAS, RAF1, RIT1, SOS1 ); SNV, CNV Noonan-Syndrom (Stufe I: PTPN11 Stufe II: BRAF, KRAS, RAF1, RIT1, SOS1 ); SNV, CNV Molecular Diagnostics / PCR
Ovarialkarzinom (BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PALB2, RAD51C, RAD51D, STK11 ); SNV, CNV Ovarialkarzinom (BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PALB2, RAD51C, RAD51D, STK11 ); SNV, CNV Molecular Diagnostics / PCR
Ovarialkarzinom - ohne BRCA1 / BRCA2 (BRIP1, MLH1, MSH2, MSH6, PALB2, RAD51C, RAD51D, STK11 ); SNV, CNV Ovarialkarzinom - ohne BRCA1 / BRCA2 (BRIP1, MLH1, MSH2, MSH6, PALB2, RAD51C, RAD51D, STK11 ); SNV, CNV Molecular Diagnostics / PCR
PAX4 PAX4 Molecular Diagnostics / PCR
PDX1 PDX1 Molecular Diagnostics / PCR
PMS2 PMS2 Molecular Diagnostics / PCR
POLD1 POLD1 Molecular Diagnostics / PCR
POLE POLE Molecular Diagnostics / PCR
PROC PROC Molecular Diagnostics / PCR
PROS1 PROS1 Molecular Diagnostics / PCR
PRSS1 PRSS1 Molecular Diagnostics / PCR
PTCH1 PTCH1 Molecular Diagnostics / PCR
PTEN PTEN Molecular Diagnostics / PCR
Pankreaskarzinom (BRCA1 , BRCA2 , CDKN2A , PALB2 , STK11 , TP53 ); SNV, CNV Pankreaskarzinom (BRCA1 , BRCA2 , CDKN2A , PALB2 , STK11 , TP53 ); SNV, CNV Molecular Diagnostics / PCR
Pankreaskarzinom, PARP- Inhibitoren-Therapie (BRCA1 , BRCA2 ); SNV, CNV Pankreaskarzinom, PARP- Inhibitoren-Therapie (BRCA1 , BRCA2 ); SNV, CNV Molecular Diagnostics / PCR
Pankreaskarzinom, erweiterte Pankreaskarzinom, erweiterte Molecular Diagnostics / PCR
Pankreatitis, hereditär (PRSS1, SPINK1/PSTI, CFTR, CPA1, CTRC ); SNV, CNV Pankreatitis, hereditär (PRSS1, SPINK1/PSTI, CFTR, CPA1, CTRC ); SNV, CNV Molecular Diagnostics / PCR
Papilläres Schilddrüsenkarzinom, familiäres nichtmedulläres Papilläres Schilddrüsenkarzinom, familiäres nichtmedulläres Molecular Diagnostics / PCR
Paragangliom-Phäochromozytom- Syndrom (RET , SDHAF2 , SDHA , SDHB , SDHC , SDHD , VHL , MAX , MEN1 , NF1 , TMEM127 ); SNV, CNV Paragangliom-Phäochromozytom- Syndrom (RET , SDHAF2 , SDHA , SDHB , SDHC , SDHD , VHL , MAX , MEN1 , NF1 , TMEM127 ); SNV, CNV Molecular Diagnostics / PCR
Prostatakarzinom (BRCA2 , ATM , BRCA1 ); SNV, CNV Prostatakarzinom (BRCA2 , ATM , BRCA1 ); SNV, CNV Molecular Diagnostics / PCR
Prostatakarzinom, PARP-Inhibitoren- Therapie (BRCA2 , BRCA1 ); SNV, CNV Prostatakarzinom, PARP-Inhibitoren- Therapie (BRCA2 , BRCA1 ); SNV, CNV Molecular Diagnostics / PCR
Prostatakarzinom, erweiterte Prostatakarzinom, erweiterte Molecular Diagnostics / PCR
Protein C-Defizienz (PROC ); SNV, CNV Protein C-Defizienz (PROC ); SNV, CNV Molecular Diagnostics / PCR
Protein S-Defizienz (PROS1 ); SNV, CNV Protein S-Defizienz (PROS1 ); SNV, CNV Molecular Diagnostics / PCR
Prämature Ovarialinsuffizienz (POF/FXPOI, FMR1 ) Prämature Ovarialinsuffizienz (POF/FXPOI, FMR1 ) Molecular Diagnostics / PCR
RAD51D RAD51D Molecular Diagnostics / PCR
Restriktive Kardiomyopathie (TNNI3, FLNC, KIF20A, MYPN, TNNT2 ); SNV, CNV Restriktive Kardiomyopathie (TNNI3, FLNC, KIF20A, MYPN, TNNT2 ); SNV, CNV Molecular Diagnostics / PCR
SHOX SHOX Molecular Diagnostics / PCR
SHOX-Defizienz (SHOX ); SNV, CNV SHOX-Defizienz (SHOX ); SNV, CNV Molecular Diagnostics / PCR
SPINK1 SPINK1 Molecular Diagnostics / PCR
Schilddrüsenkarzinom (APC, BAP1, CHEK2, DICER1, PRKAR1A, PTEN, TP53 ); SNV, CNV Schilddrüsenkarzinom (APC, BAP1, CHEK2, DICER1, PRKAR1A, PTEN, TP53 ); SNV, CNV Molecular Diagnostics / PCR
Short-QT-Syndrom (KCNH2, KCNJ2, KCNQ1, CACNA1C, CACNB2 ); SNV, CNV Short-QT-Syndrom (KCNH2, KCNJ2, KCNQ1, CACNA1C, CACNB2 ); SNV, CNV Molecular Diagnostics / PCR
Sichelzellanämie (HbS-Mutation in HBB ) Sichelzellanämie (HbS-Mutation in HBB ) Molecular Diagnostics / PCR
Sotos-Syndrom (NSD1, PTEN, PTCH1, GPC3 ); SNV, CNV Sotos-Syndrom (NSD1, PTEN, PTCH1, GPC3 ); SNV, CNV Molecular Diagnostics / PCR
TP53 TP53 Molecular Diagnostics / PCR
TSC1 TSC1 Molecular Diagnostics / PCR
TSC2 TSC2 Molecular Diagnostics / PCR
Thalassämie-alpha (HBA1 , HBA2 ) Thalassämie-alpha (HBA1 , HBA2 ) Molecular Diagnostics / PCR
Thalassämie-beta (HBB ) Thalassämie-beta (HBB ) Molecular Diagnostics / PCR
Tuberöse Sklerose (TSC1 , TSC2 ); SNV, CNV Tuberöse Sklerose (TSC1 , TSC2 ); SNV, CNV Molecular Diagnostics / PCR
Tumorprädispositionssyndrome (individuell); SNV, CNV Tumorprädispositionssyndrome (individuell); SNV, CNV Molecular Diagnostics / PCR
Young (MODY; HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1 ); SNV, CNV Young (MODY; HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1 ); SNV, CNV Molecular Diagnostics / PCR
[hereditary Cancer-Panel] [hereditary Cancer-Panel] Molecular Diagnostics / PCR
coli (FAP/MAP; APC , MUTYH ); SNV, CNV coli (FAP/MAP; APC , MUTYH ); SNV, CNV Molecular Diagnostics / PCR
malignes Melanom (CDKN2A, CDK4, ACD, BAP1, MITF, POT1, TERF2IP, TERT ); SNV, CNV malignes Melanom (CDKN2A, CDK4, ACD, BAP1, MITF, POT1, TERF2IP, TERT ); SNV, CNV Molecular Diagnostics / PCR
ventrikuläre Tachykardie (RYR2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, TECRL, TRDN ); SNV, CNV ventrikuläre Tachykardie (RYR2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, TECRL, TRDN ); SNV, CNV Molecular Diagnostics / PCR
CNV CNV Other
FH FH Other
SNV, CNV SNV, CNV Other
[Custom Panel] [Custom Panel] Other
[Targeted DNA Custom Panel] [Targeted DNA Custom Panel] Other
COL5A1 COL5A1 Spectroscopy (XRF, ICP, AAS)
ABCC8 ABCC8 Sterility Testing

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