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 4 of 14

• Congenital hypothyroidism (TRHR gene, sequencing)

  Code 3280 · Next-generation sequencing (NGS)

  Genes: TRHR

  Turnaround time: 33 working days

• Congenital hypothyroidism (TSHB gene, sequencing)

  Code 3279 · Next-generation sequencing (NGS)

  Genes: TSHB

  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 nonautoimmune hyperthyroidism (TSHR gene, sequencing)

  Code 3270 · Sanger sequencing

  Genes: TSHR

  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

• Creatine deficiency (GAMT gene, NGS)

  Code 10580 · Next-generation sequencing (NGS)

  Genes: GAMT

  Turnaround time: 33 working days

• Crigler-Najjar syndrome (UGT1A1 gene, NGS)

  Code 10526 · Next-generation sequencing (NGS)

  Genes: UGT1A1

  Turnaround time: 33 working days

• CYP1A2 deficiency (CYP1A2 gene, NGS)

  Code 10546 · Next-generation sequencing (NGS)

  Genes: CYP1A2

  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

• Cystinosis (CTNS gene, NGS)

  Code 10476 · Next-generation sequencing (NGS)

  Genes: CTNS

  Turnaround time: 33 working days

• Cystinuria (2-gene panel, NGS)

  Code 10479 · Next-generation sequencing (NGS)

  Genes: SLC3A1, SLC7A9

  Turnaround time: 33 working days

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

  Code 10573 · Next-generation sequencing (NGS)

  Genes: HSD17B4

  Turnaround time: 33 working days

• DCK deficiency (DCK gene, NGS)

  Code 10547 · Next-generation sequencing (NGS)

  Genes: DCK

  Turnaround time: 33 working days

• Dent disease (2-gene panel, NGS)

  Code 10619 · Next-generation sequencing (NGS)

  Genes: CLCN5, OCRL

  Turnaround time: 33 working days

• Dent disease (CLCN5 gene, NGS)

  Code 10617 · Next-generation sequencing (NGS)

  Genes: CLCN5

  Turnaround time: 33 working days

• Dent disease (OCRL gene, NGS)

  Code 10618 · Next-generation sequencing (NGS)

  Genes: OCRL

  Turnaround time: 33 working days

• Diabetes, MODY type (15-gene panel, NGS)

  Code 3221 · Next-generation sequencing (NGS)

  Genes: ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A and 7 more

  Turnaround time: 33 working days

• DiGeorge syndrome (TBX1 gene, NGS)

  Code 10646 · Next-generation sequencing (NGS)

  Genes: TBX1

  Turnaround time: 33 working days

• Dihydropyrimidine dehydrogenase deficiency, DPYD gene mutation

  Code 3185 · PCR

  Genes: DPYD

  Turnaround time: 13 working days

• Dihydropyrimidine dehydrogenase deficiency (DPYD gene, NGS)

  Code 10548 · Next-generation sequencing (NGS)

  Genes: DPYD

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Dominant hypophosphatemia with nephrolithiasis or osteoporosis (SLC34A1 gene, NGS)

  Code 11017 · Next-generation sequencing (NGS)

  Genes: SLC34A1

  Turnaround time: 33 working days

• Dubin-Johnson syndrome (ABCC2 gene, NGS)

  Code 10802 · Next-generation sequencing (NGS)

  Genes: ABCC2

  Turnaround time: 33 working days

• Dyslipidemias, comprehensive (77-gene panel, NGS)

  Code 10660 · Next-generation sequencing (NGS)

  Genes: ABCA1, ABCC8, ABCG1, ABCG5, ABCG8, AGPAT2, AKT2, ALMS1 and 69 more

  Turnaround time: 33 working days

• Dystroglycanopathies (16-gene panel, NGS)

  Code 10172 · Next-generation sequencing (NGS)

  Genes: B3GALNT2, B3GNT2, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN and 8 more

  Turnaround time: 33 working days

• Ectrodactyly, ectodermal dysplasia and cleft palate, EEC syndrome (TP63 gene, NGS)

  Code 10806 · Next-generation sequencing (NGS)

  Genes: TP63

  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