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

151 tests · Page 4 of 6

• Lung fusions + mutational profile, liquid biopsy

  Code 4417 · Next-generation sequencing (NGS)

  Genes: Mutation hotspots in 50 cancer-related genes (ABL1, EGFR, GNAS, KRAS, PTPN11, AKT1, ERBB2, GNAQ, MET, RB1, ALK, ERBB4, HNF1A, MLH1, RET, APC, EZH2, HRAS, MPL…

  Turnaround time: 30 working days

• Lung somatic panel, liquid biopsy

  Code 4432 · NGS / Real-time PCR

  Genes: Pesquisa de mutações pontuais e pequenas deleções/inserções em hotspots mutacionais dos genes NRAS,EGFR,ALK,KRAS,PIK3CA,BRAF,MET e ERBB2 em biópsia líquida.

  Turnaround time: 15 working days

• Lung somatic panel, tissue biopsy

  Code 4431 · NGS / Real-time PCR

  Genes: Pesquisa de mutações pontuais e pequenas deleções/inserções em hotspots mutacionais dos genes EGFR, KRAS, NRAS, BRAF, MET, ALK, PIK3CA , ERBB2

  Turnaround time: 15 working days

• Marfan syndrome (3-gene panel, NGS)

  Code 11117 · Next-generation sequencing (NGS)

  Genes: TGFBR1, TGFBR2, FBN1

  Turnaround time: 33 working days

• Marfan syndrome (FBN1 gene, NGS)

  Code 11115 · Next-generation sequencing (NGS)

  Genes: FBN1

  Turnaround time: 33 working days

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days

• MCCC1 gene testing (sequencing)

  Code 3359 · Next-generation sequencing (NGS)

  Genes: MCCC1

  Turnaround time: 33 working days

• MCCC2 gene testing (sequencing)

  Code 3360 · Next-generation sequencing (NGS)

  Genes: MCCC2

  Turnaround time: 33 working days

• Methylmalonic acidemia (MCEE gene, NGS)

  Code 10112 · Next-generation sequencing (NGS)

  Genes: MCEE

  Turnaround time: 33 working days

• Methylmalonic acidemia (MMAA gene, NGS)

  Code 10111 · Next-generation sequencing (NGS)

  Genes: MMAA

  Turnaround time: 33 working days

• Methylmalonic acidemia (MTR gene, NGS)

  Code 10108 · Next-generation sequencing (NGS)

  Genes: MTR

  Turnaround time: 33 working days

• Methylmalonic acidemia (MUT gene, NGS)

  Code 10109 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days

• Methylmalonic acidemia (TCN2 gene, NGS)

  Code 10110 · Next-generation sequencing (NGS)

  Genes: TCN2

  Turnaround time: 33 working days

• Methylmalonic acidemia, vitamin B12-responsive, type cblB (MMAB gene, NGS)

  Code 10118 · Next-generation sequencing (NGS)

  Genes: MMAB

  Turnaround time: 33 working days

• Mitochondrial trifunctional protein deficiency (HADHB gene, NGS)

  Code 10590 · Next-generation sequencing (NGS)

  Genes: HADHB

  Turnaround time: 33 working days

• Molecular testing for cystic fibrosis variants in amniotic fluid

  Code 3043 · PCR / Fragment analysis

  Genes: CFTR

  Turnaround time: 30 working days

• Molecular testing of the GAA gene (Pompe disease)

  Code 3156 · Molecular hybridization (PCR)

  Genes: GAA

  Turnaround time: 23 working days

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

  Code 11150 · Next-generation sequencing (NGS)

  Genes: SGSH

  Turnaround time: 33 working days

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Oncology panel (157-gene panel, NGS)

  Code 3310 · Next-generation sequencing (NGS)

  Genes: AIP, AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1 and 149 more

  Turnaround time: 33 working days

• Opitz syndrome (MID1 gene, NGS)

  Code 11215 · Next-generation sequencing (NGS)

  Genes: MID1

  Turnaround time: 33 working days

• Peutz-Jeghers syndrome (STK11 gene, NGS)

  Code 11288 · Next-generation sequencing (NGS)

  Genes: STK11

  Turnaround time: 33 working days

• Pitt-Hopkins syndrome (TCF4 gene, NGS)

  Code 11293 · Next-generation sequencing (NGS)

  Genes: TCF4

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 10 (DNAAF2 gene, NGS)

  Code 10714 · Next-generation sequencing (NGS)

  Genes: DNAAF2

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 11 (RSPH4A gene, NGS)

  Code 10715 · Next-generation sequencing (NGS)

  Genes: RSPH4A

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 12 (RSPH9 gene, NGS)

  Code 10716 · Next-generation sequencing (NGS)

  Genes: RSPH9

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 13 (DNAAF1 gene, NGS)

  Code 10717 · Next-generation sequencing (NGS)

  Genes: DNAAF1

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 14 (CCDC39 gene, NGS)

  Code 10718 · Next-generation sequencing (NGS)

  Genes: CCDC39

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 15 (CCDC40 gene, NGS)

  Code 10719 · Next-generation sequencing (NGS)

  Genes: CCDC40

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 16 (DNAL1 gene, NGS)

  Code 10720 · Next-generation sequencing (NGS)

  Genes: DNAL1

  Turnaround time: 33 working days