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

911 tests · Page 14 of 31

• Frontonasal dysplasia type 1 (ALX3 gene, NGS)

  Code 10691 · Next-generation sequencing (NGS)

  Genes: ALX3

  Turnaround time: 33 working days

• Frontonasal dysplasia type 2 (ALX4 gene, NGS)

  Code 10692 · Next-generation sequencing (NGS)

  Genes: ALX4

  Turnaround time: 33 working days

• Frontonasal dysplasia type 3 (ALX1 gene, NGS)

  Code 10693 · Next-generation sequencing (NGS)

  Genes: ALX1

  Turnaround time: 33 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/ALS, GGGGCC (C9orf72 gene, TP-PCR)

  Code 3266 · PCR / Fragment analysis

  Genes: GGGGCC (gene C9orf72, TP-PCR)

  Turnaround time: 28 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

• Fumaric aciduria, c1431_1433dupAAA mutation, FH gene

  Code 10127 · Next-generation sequencing (NGS)

  Genes: FH

  Turnaround time: 33 working days

• Fumaric aciduria (FH gene, NGS)

  Code 10128 · Next-generation sequencing (NGS)

  Genes: FH

  Turnaround time: 33 working days

• Galactosemia (GALT gene, NGS)

  Code 10929 · Next-generation sequencing (NGS)

  Genes: GALT

  Turnaround time: 33 working days

• Galactosialidosis (CTSA gene, NGS)

  Code 10930 · Next-generation sequencing (NGS)

  Genes: CTSA

  Turnaround time: 33 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  Turnaround time: 33 working days

• Gastrointestinal atresia (13-gene panel, NGS)

  Code 10169 · Next-generation sequencing (NGS)

  Genes: CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1 and 5 more

  Turnaround time: 33 working days

• Geleophysic dysplasia (ADAMTSL2 gene, NGS)

  Code 10694 · Next-generation sequencing (NGS)

  Genes: ADAMTSL2

  Turnaround time: 33 working days

• Generalized arterial calcification of infancy (ENPP1 gene, NGS)

  Code 10407 · Next-generation sequencing (NGS)

  Genes: ENPP1

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (GABRD gene, NGS)

  Code 10881 · Next-generation sequencing (NGS)

  Genes: GABRD

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (GABRG2 gene, NGS)

  Code 10882 · Next-generation sequencing (NGS)

  Genes: GABRG2

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (SCN1B gene, NGS)

  Code 10880 · Next-generation sequencing (NGS)

  Genes: SCN1B

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (SCN9A gene, NGS)

  Code 10879 · Next-generation sequencing (NGS)

  Genes: SCN9A

  Turnaround time: 33 working days

• Genetic characterization

  Code 3149 · Cytogenetic analysis

  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 iron overload disorders

  Code 3340 · Next-generation sequencing (NGS)

  Genes: ATN1, ATP13A2, ATP7B, C19orf12, COASY, CP, DCAF17, FA2H and 12 more

  Turnaround time: 33 working days

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

  Code 3184 · Sanger sequencing

  Genes: PYGM

  Turnaround time: 33 working days

• Genetic testing for metachromatic leukodystrophy

  Code 3083 · Sequencing

  Genes: PSAP

  Turnaround time: 31 working days