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GERMANY

Bayern
NÜRNBERG

Molecular diagnosis of Y chromosome deletions (AZF1: multiplex PCR)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Holt-Oram syndrome (TBX5 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of familial dilated cardiomyopathy (ACTC1, CSRP3, LDB3, LMNA, MYH7, MYBPC3, PLN, TNNT2, TNNC1, TNNI3, TPM1 and VCL genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of laminopathies (LMNA gene: sequencing)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1 and SOS1 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of creatine transporter deficiency (SLC6A8 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of X linked syndromic mental retardation type Claes-Jensen (KDM5C gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Barth syndrome (TAZ gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of FGFR associated syndromes (FGFR2 and FGFR3 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of achondrogenesis type 1B and 2 (COL2A1, SLC26A2 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of congenital heart defects (NKX2-5, GATA4 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of atelosteogenesis type II (SLC26A2 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of diastrophic dwarfism (SLC26A2 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of multiple epiphyseal dysplasia type 4 (SLC26A2 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of carnitine palmitoyl transferase 2 deficiency (CPT2 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of hydatidiform mole (NLRP7 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of LEOPARD syndrome (PTPN11 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of osteogenesis imperfecta type IIB and VII (CRTAP gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of COL2A1 gene-associated diseases (Stickler syndrome type 1, spondyloepiphyseal dysplasia, Kniest dysplasia and others)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Angelman syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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GERMANY

Bayern
NÜRNBERG

Diagnosis of DiGeorge syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Kallmann syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Miller-Dieker syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Smith-Magenis syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Williams-Beuren syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Bayern
NÜRNBERG

Molecular cytogenetic search for cryptic subtelomeric anomalies (subtelomer FISH)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Bayern
NÜRNBERG

Diagnosis of ZASP-related myofibrillar myopathy (LDB3 gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of cystic fibrosis (CFTR gene)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of predisposition to breast and ovarian cancer (BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, TP53 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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