Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

58 Result(s)

List of diseases tested (93)

22q11.2 deletion syndrome
APC-related attenuated familial adenomatous polyposis
Achondroplasia
Attenuated familial adenomatous polyposis
Atypical Rett syndrome
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 4
Beckwith-Wiedemann syndrome
Cardiofaciocutaneous syndrome
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1E
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Classic galactosemia
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Costello syndrome
Cowden syndrome
Crigler-Najjar syndrome
Crouzon disease
Cystic fibrosis
Dentatorubral pallidoluysian atrophy
Dihydropyrimidine dehydrogenase deficiency
Duchenne and Becker muscular dystrophy
Fabry disease
Familial Mediterranean fever
Familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Fragile X syndrome
Friedreich ataxia
Gardner syndrome
Gastrointestinal stromal tumor
Generalized juvenile polyposis/juvenile polyposis coli
Glycogen storage disease due to LAMP-2 deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary chronic pancreatitis
Hereditary hemorrhagic telangiectasia
Hereditary mixed polyposis syndrome
Hereditary neuropathy with liability to pressure palsies
Hereditary site-specific ovarian cancer syndrome
Hirschsprung disease
Hirschsprung disease-ganglioneuroblastoma syndrome
Huntington disease
Hypochondroplasia
Incontinentia pigmenti
Juvenile polyposis of infancy
Leber hereditary optic neuropathy
Legius syndrome
Li-Fraumeni syndrome
Lynch syndrome
Léri-Weill dyschondrosteosis
MUTYH-related attenuated familial adenomatous polyposis
Mowat-Wilson syndrome due to monosomy 2q22
Mucopolysaccharidosis type 1
Multiple osteochondromas
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
NTHL1-related attenuated familial adenomatous polyposis
Nail-patella syndrome
Netherton syndrome
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with loose anagen hair
Oculopharyngeal muscular dystrophy
Opitz GBBB syndrome
Peutz-Jeghers syndrome
Polymerase proofreading-related adenomatous polyposis
Prader-Willi syndrome
Proximal spinal muscular atrophy
Recessive X-linked ichthyosis
Retinitis pigmentosa
SHOX-related short stature
Selection of therapeutic option in non-small cell lung carcinoma
Short stature due to growth hormone qualitative anomaly
Silver-Russell syndrome
Sotos syndrome
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Steinert myotonic dystrophy
Syndromic recessive X-linked ichthyosis
Tuberous sclerosis complex
Turcot syndrome with polyposis
Waardenburg-Shah syndrome
Williams syndrome
Wilson disease
X-linked Charcot-Marie-Tooth disease type 1
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (58)

SPAIN

Cataluña
TERRASSA

Diagnosis of achondroplasia (FGFR3 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of Friedreich ataxia (FXN gene, GAA expansion)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATN1 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of proximal spinal muscular atrophy (SMN1, SMN2 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of CADASIL syndrome (NOTCH3 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of Charcot-Marie-Tooth disease type 1E, 1A, 1B and X-linked type 1 (PMP22, MPZ, GJB1 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of dihydropyrimidine dehydrogenase deficiency (DPYD gene / c.1905+1G>A mutation)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
Consorci Sanitari de Terrassa
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

SPAIN

Cataluña
TERRASSA

Diagnosis of short stature due to growth hormone qualitative anomaly (GH1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Steinert myotonic dystrophy (DMPK gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Consorci Sanitari de Terrassa
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

SPAIN

Cataluña
TERRASSA

Diagnosis of oculopharyngeal muscular dystrophy (PABPN1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of gastrointestinal stromal tumor (KIT, PDGFRA genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of cystic fibrosis (CFTR gene)
Consorci Sanitari de Terrassa
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of hypochondroplasia (FGFR3 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of familial primary hypomagnesemia with hypercalcuria (CLDN16, CLDN19 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of incontinentia pigmenti (IKBKG gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Fabry disease (GLA gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of Huntington disease (HTT gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Wilson disease (ATP7B gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of mucopolysaccharidosis type 1 (IDUA gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Leber hereditary optic neuropathy (MTND1, MTND4, MTND6 genes / m.3460G>A, m.11778G>A, m.14484T>C mutations)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of hereditary chronic pancreatitis (CTRC, SPINK1, PRSS1 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of retinitis pigmentosa (RHO, CRX, PRPH2, RP1, NRL, NR2E3, PRPF3, PRPF8, PRPF31, IMPDH1, KLHL7 genes)
Consorci Sanitari de Terrassa
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

SPAIN

Cataluña
TERRASSA

Diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of fragile X syndrome (FMR1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Legius syndrome (SPRED1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of nail-patella syndrome (LMX1B gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Netherton syndrome (SPINK5 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of hereditary hemorrhagic telangiectasia (ENG gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of atypical Rett syndrome (FOXG1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of Silver-Russell and Beckwith-Wiedemann syndromes
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Sotos syndrome (NSD1 gene)
Consorci Sanitari de Terrassa
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

SPAIN

Cataluña
TERRASSA

Diagnosis of Lynch syndrome (MLH1, MSH2, MSH6, PMS2, KRAS genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of classic galactosemia (GALT gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Selection of therapeutic option in non-small cell lung carcinoma (EGFR gene)
Consorci Sanitari de Terrassa
Purpose(s) : Pharmacogenetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of autosomal dominant spastic paraplegia type 3 (ATL1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of autosomal dominant spastic paraplegia type 4 (SPAST gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of 22q11.2 deletion syndrome
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Prader-Willi syndrome
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Williams syndrome (7q11.23 region)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Array based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Waardenburg-Shah syndrome (EDN3, EDNRB and SOX10 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of multiple osteochondromas (EXT1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of Hirschsprung disease (EDN3, EDNRB, GDNF, NRTN, PHOX2B, RET, SOX10, ZEB2 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of SHOX-related short stature (SHOX gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of familial Mediterranean fever (MEFV gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of recessive X-linked ichthyosis (STS gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Array based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Cowden syndrome (PTEN gene)
Consorci Sanitari de Terrassa
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

SPAIN

Cataluña
TERRASSA

Diagnosis of Li-Fraumeni syndrome (CHEK2, TP53 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
TERRASSA

Diagnosis of tuberous sclerosis complex (TSC1, TSC2 genes)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
TERRASSA

Diagnosis of Crouzon disease (FGFR2 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of neurofibromatosis type 1 (NF1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Opitz G/BBB syndrome (MID1 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of hereditary breast and ovarian cancer syndrome (panel)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
TERRASSA

Diagnosis of hypertrophic cardiomyopathy (panel)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)