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

414 tests · Page 10 of 14

• MODY type 3, sequencing (HNF1A gene)

  Code 3218 · Sanger sequencing

  Genes: HNF1A

  Turnaround time: 33 working days

• Molecular testing for hemochromatosis [EMH] (S65C, C282Y and H63D)

  Code 3016 · Molecular biology

  Genes: HFE

  Turnaround time: 30 working days

• Molecular testing of the COMT gene (PCR)

  Code 3132 · PCR

  Genes: COMT

  Turnaround time: 24 working days

• Molecular testing of the GAA gene (Pompe disease)

  Code 3156 · Molecular hybridization (PCR)

  Genes: GAA

  Turnaround time: 23 working days

• Morbid obesity (MC4R gene, NGS)

  Code 11198 · Next-generation sequencing (NGS)

  Genes: MC4R

  Turnaround time: 33 working days

• Muckle-Wells syndrome (NLRP3 gene, NGS)

  Code 11142 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Mucolipidosis (GNPTAB gene, NGS)

  Code 11144 · Next-generation sequencing (NGS)

  Genes: GNPTAB

  Turnaround time: 33 working days

• Mucolipidosis (GNPTG gene, NGS)

  Code 11145 · Next-generation sequencing (NGS)

  Genes: GNPTG

  Turnaround time: 33 working days

• Mucolipidosis type 4 (MCOLN1 gene, NGS)

  Code 11143 · Next-generation sequencing (NGS)

  Genes: MCOLN1

  Turnaround time: 33 working days

• Mucopolysaccharidosis (10-gene panel, NGS)

  Code 11147 · Next-generation sequencing (NGS)

  Genes: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, IDS, IDUA and 2 more

  Turnaround time: 33 working days

• Mucopolysaccharidosis type 1H, 1S (Hurler syndrome) (IDUA gene, NGS)

  Code 11148 · Next-generation sequencing (NGS)

  Genes: IDUA

  Turnaround time: 33 working days

• Mucopolysaccharidosis type II (Hunter syndrome) (IDS gene, NGS)

  Code 11149 · Next-generation sequencing (NGS)

  Genes: IDS

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IIIA (Sanfilippo A) (SGSH gene, NGS)

  Code 11150 · Next-generation sequencing (NGS)

  Genes: SGSH

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome) (NAGLU gene, NGS)

  Code 11151 · Next-generation sequencing (NGS)

  Genes: NAGLU

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IIIC (Sanfilippo C syndrome) (HGSNAT gene, NGS)

  Code 11152 · Next-generation sequencing (NGS)

  Genes: HGSNAT

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IIID (GNS gene, NGS)

  Code 11153 · Next-generation sequencing (NGS)

  Genes: GNS

  Turnaround time: 33 working days

• Mucopolysaccharidosis type II (IDS gene, sequencing)

  Code 3395 · Sequencing

  Genes: IDS

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IV B (GLB1 gene, NGS)

  Code 11154 · Next-generation sequencing (NGS)

  Genes: GLB1

  Turnaround time: 33 working days

• Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (ARSB gene, NGS)

  Code 11155 · Next-generation sequencing (NGS)

  Genes: ARSB

  Turnaround time: 33 working days

• Multiple endocrine neoplasia (CDKN1B gene, MLPA)

  Code 3518 · MLPA

  Genes: CDKN1B

  Turnaround time: 33 working days

• Multiple endocrine neoplasia (CDKN1B gene, NGS)

  Code 3517 · Next-generation sequencing (NGS)

  Genes: CDKN1B

  Turnaround time: 23 working days

• Multiple endocrine neoplasia (gene panel, NGS, CNVs)

  Code 3435 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Multiple endocrine neoplasia type 1 (MEN1 gene, sequencing)

  Code 3278 · Next-generation sequencing (NGS)

  Genes: MEN1

  Turnaround time: 33 working days

• Multiple endocrine neoplasia type 1 (MEN1) (MEN1 gene, NGS)

  Code 11163 · Next-generation sequencing (NGS)

  Genes: MEN1

  Turnaround time: 33 working days

• Multiple endocrine neoplasia type 2 (MEN2) (RET gene, NGS)

  Code 11164 · Next-generation sequencing (NGS)

  Genes: RET

  Turnaround time: 33 working days

• MyFitnessGenes

  Code 3404 · DNA microchip

  Turnaround time: 10 working days

• Myotonic dystrophy type 1 [Steinert] (DMPK gene)

  Code 3020 · PCR / Fragment analysis

  Genes: Expansão CTG no gene DMPK

  Turnaround time: 33 working days

• Myotonic dystrophy type 2, CCTG repeat expansion (CNBP gene)

  Code 3216 · Molecular hybridization (PCR)

  Genes: CNBP

  Turnaround time: 63 working days

• Neuroacanthocytosis, Wilson disease and hemochromatosis (25-gene panel, NGS)

  Code 10178 · Next-generation sequencing (NGS)

  Genes: ATN1, ATP13A2, ATP7B, C19orf12, COASY, CP, DCAF17, FA2H and 17 more

  Turnaround time: 33 working days

• Neurohypophyseal diabetes insipidus (AVP gene, NGS)

  Code 10630 · Next-generation sequencing (NGS)

  Genes: AVP

  Turnaround time: 33 working days