Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

617 tests · Page 10 of 21

• FH gene testing (sequencing)

  Code 3406 · Sequencing

  Genes: FH

  Turnaround time: 33 working days

• Fiber-type disproportion myopathy and Shprintzen-Goldberg syndrome (32-gene panel, NGS)

  Code 10013 · Next-generation sequencing (NGS)

  Genes: ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, ATP2A1 and 24 more

  Turnaround time: 33 working days

• Fibular aplasia and complex brachydactyly (Du Pan syndrome) (GDF5 gene, NGS)

  Code 10285 · Next-generation sequencing (NGS)

  Genes: GDF5

  Turnaround time: 33 working days

• Finnish congenital nephrosis (nephrotic syndrome type 1) (NPHS1 gene, NGS)

  Code 11162 · Next-generation sequencing (NGS)

  Genes: NPHS1

  Turnaround time: 33 working days

• Floating-Harbor syndrome (SRCAP gene, NGS)

  Code 10915 · Next-generation sequencing (NGS)

  Genes: SRCAP

  Turnaround time: 33 working days

• FLT3 mutations

  Code 3189 · Sequencing

  Genes: FLT3

  Turnaround time: 33 working days

• FOXL2 gene testing (MLPA)

  Code 3508 · MLPA

  Genes: FOXL2

  Turnaround time: 28 working days

• Frontotemporal dementia (27-gene panel, NGS)

  Code 3226 · Next-generation sequencing (NGS)

  Genes: APP, CHCHD10, CHMP2B, CSF1R, DCTN1, DNAJC5, DNMT1, EPM2A and 19 more

  Turnaround time: 53 working days

• Frontotemporal dementia, point mutation (familial case)

  Code 3109 · Sequencing

  Genes: Mutação Pontual

  Turnaround time: 33 working days

• Frontotemporal dementia, sequencing (MAPT gene)

  Code 3107 · Sequencing

  Genes: MAPT

  Turnaround time: 48 working days

• Frontotemporal dementia, sequencing (PGRN gene)

  Code 3108 · Sequencing

  Genes: PGRN

  Turnaround time: 48 working days

• Frontotemporal dementia with amyotrophic lateral sclerosis (ALS) (C9orf72 gene, NGS)

  Code 10613 · Next-generation sequencing (NGS)

  Genes: C9orf72

  Turnaround time: 33 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  Turnaround time: 33 working days

• Genetic diagnostic panel (NGS)

  Code 11241 · Next-generation sequencing (NGS)

  Genes: PAIdo

  Turnaround time: 33 working days

• Genetic testing (2 genes, NGS, CNVs)

  Code 3402 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 working days

• Genetic testing for Duchenne muscular dystrophy

  Code 3070 · MLPA / PCR

  Genes: DMD

  Turnaround time: 93 working days

• Genetic testing for familial Mediterranean fever (MEFV gene)

  Code 3117 · MLPA / PCR

  Genes: MEFV

  Turnaround time: 33 working days

• Genetic testing for intrahepatic cholestasis (ABCB4)

  Code 3114 · Sequencing

  Genes: ABCB4

  Turnaround time: 53 working days

• Genetic testing for McArdle disease, sequencing (PYGM gene)

  Code 3184 · Sanger sequencing

  Genes: PYGM

  Turnaround time: 33 working days

• Genetic testing for protein S

  Code 3053 · Cytogenetic analysis

  Genes: PROS1

  Turnaround time: 3 months

• Genetic testing for prothrombotic risk factors [EGFRP]

  Code 3015 · PCR

  Genes: Factor V de Leiden, Mutação G20210A no gene F2 Mutação C677T no gene MTHFR Mutação A1298C no gene MTHFR Alelos 4G/5G no gene PAI1

  Turnaround time: 10 working days

• Genetic testing for spastic paraplegia SPG7 (paraplegin)

  Code 3116 · PCR / Sequencing

  Genes: SPG7

  Turnaround time: 35 working days

• Genetic testing of ferroportin (SLC40A1)

  Code 3115 · Sequencing

  Genes: SLC40A1

  Turnaround time: 33 working days

• Genetic testing of RYR2 and CASQ2

  Code 3030 · Molecular biology

  Genes: RYR2, CASQ2

  Turnaround time: 180 working days

• Genetic testing of the NTHL1 gene (NGS, Sanger)

  Code 4233 · NGS, Sanger sequencing

  Genes: NTHL1

  Turnaround time: 30 working days

• Gilbert syndrome (UGT1A1 gene, NGS)

  Code 10934 · Next-generation sequencing (NGS)

  Genes: UGT1A1

  Turnaround time: 33 working days

• Gitelman syndrome (2-gene panel, NGS)

  Code 10936 · Next-generation sequencing (NGS)

  Genes: SLC12A3, CLCNKB

  Turnaround time: 33 working days

• Gitelman syndrome (SLC12A3 gene, NGS)

  Code 10935 · Next-generation sequencing (NGS)

  Genes: SLC12A3

  Turnaround time: 33 working days

• GJA1 gene testing (sequencing)

  Code 3337 · Sanger sequencing

  Genes: GJA1

  Turnaround time: 30 working days

• Glucose-6-phosphate dehydrogenase deficiency (G6PD gene, sequencing)

  Code 3349 · Sanger sequencing

  Genes: G6PD

  Turnaround time: 33 working days