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

197 tests · Page 2 of 7

• Congenital diarrhea with malabsorption due to enteroendocrine cell deficiency (NEUROG3 gene, NGS)

  Code 10641 · Next-generation sequencing (NGS)

  Genes: NEUROG3

  Turnaround time: 33 working days

• Congenital erythropoietic porphyria (UROS gene, NGS)

  Code 11302 · Next-generation sequencing (NGS)

  Genes: UROS

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 1 (AGPAT2 gene, NGS)

  Code 11090 · Next-generation sequencing (NGS)

  Genes: AGPAT2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 2 (BSCL2 gene, NGS)

  Code 11091 · Next-generation sequencing (NGS)

  Genes: BSCL2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 3 (CAV1 gene, NGS)

  Code 11092 · Next-generation sequencing (NGS)

  Genes: CAV1

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 4 (PTRF gene, NGS)

  Code 11093 · Next-generation sequencing (NGS)

  Genes: PTRF

  Turnaround time: 33 working days

• Congenital lactase deficiency, c.4170T>A (p.Tyr1390Ter) mutation, LCT gene

  Code 10538 · Next-generation sequencing (NGS)

  Genes: LCT

  Turnaround time: 33 working days

• Congenital lactase deficiency (LCT gene, NGS)

  Code 10539 · Next-generation sequencing (NGS)

  Genes: LCT

  Turnaround time: 33 working days

• Congenital sucrase-isomaltase deficiency (SI gene, NGS)

  Code 10537 · Next-generation sequencing (NGS)

  Genes: SI

  Turnaround time: 33 working days

• Congenital sucrase-isomaltase deficiency (SI gene, NGS)

  Code 3327 · Next-generation sequencing (NGS)

  Genes: SI

  Turnaround time: 33 working days

• Corticosterone methyloxidase type I deficiency (CYP11B2 gene, NGS)

  Code 10545 · Next-generation sequencing (NGS)

  Genes: CYP11B2

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Crigler-Najjar syndrome (UGT1A1 gene, NGS)

  Code 10526 · Next-generation sequencing (NGS)

  Genes: UGT1A1

  Turnaround time: 33 working days

• Cystic fibrosis and differential diagnosis (5-gene panel, NGS)

  Code 10911 · Next-generation sequencing (NGS)

  Genes: CA12, CFTR, SCNN1A, SCNN1B, SCNN1G

  Turnaround time: 33 working days

• Cystic fibrosis (phase I: common variants)

  Code 3022 · PCR

  Genes: CFTR

  Turnaround time: 15 working days

• D-bifunctional protein deficiency (HSD17B4 gene, NGS)

  Code 10573 · Next-generation sequencing (NGS)

  Genes: HSD17B4

  Turnaround time: 33 working days

• Desminopathy (DES gene, NGS)

  Code 10626 · Next-generation sequencing (NGS)

  Genes: DES

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Dubin-Johnson syndrome (ABCC2 gene, NGS)

  Code 10802 · Next-generation sequencing (NGS)

  Genes: ABCC2

  Turnaround time: 33 working days

• Emphysema secondary to AAT (alpha-1-antitrypsin) deficiency, SERPINA1 S and Z variants (PiS (Glu264Val): rs17580 and PiZ (Glu342Lys): rs28929474) (SERPINA1 gene, NGS)

  Code 11362 · Next-generation sequencing (NGS)

  Genes: SERPINA1

  Turnaround time: 33 working days

• Encephalopathy due to prosaposin deficiency (PSAP gene, NGS)

  Code 10838 · Next-generation sequencing (NGS)

  Genes: PSAP

  Turnaround time: 33 working days

• Enterokinase deficiency (TMPRSS15 gene, NGS)

  Code 10559 · Next-generation sequencing (NGS)

  Genes: TMPRSS15

  Turnaround time: 33 working days

• Erythropoietic protoporphyria (FECH gene, NGS)

  Code 11307 · Next-generation sequencing (NGS)

  Genes: FECH

  Turnaround time: 33 working days

• Ethylmalonic encephalopathy (ETHE1 gene, NGS)

  Code 10843 · Next-generation sequencing (NGS)

  Genes: ETHE1

  Turnaround time: 33 working days

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Familial adenomatous polyposis - APC, MUTYH genes

  Code 4004 · NGS, Sanger sequencing, MLPA

  Genes: APC, MUTYH

  Turnaround time: 30 working days

• Familial amyloid polyneuropathy (FAP)

  Code 2445 · PCR

  Genes: TTR

  Turnaround time: 33 working days

• Familial colorectal cancer (20-gene panel, NGS)

  Code 10055 · Next-generation sequencing (NGS)

  Genes: APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1 and 12 more

  Turnaround time: 33 working days

• Familial congenital intractable diarrhea with epithelial abnormalities (EPCAM gene, NGS)

  Code 10643 · Next-generation sequencing (NGS)

  Genes: EPCAM

  Turnaround time: 33 working days