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 5 of 14

• 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

• Fabry disease (GLA gene, NGS)

  Code 10917 · Next-generation sequencing (NGS)

  Genes: GLA

  Turnaround time: 33 working days

• Familial combined hyperlipidemia (USF1 gene, NGS)

  Code 10997 · Next-generation sequencing (NGS)

  Genes: USF1

  Turnaround time: 33 working days

• Familial hypercholesterolemia (18-gene panel, NGS)

  Code 10059 · Next-generation sequencing (NGS)

  Genes: ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2 and 10 more

  Turnaround time: 33 working days

• Familial hypercholesterolemia (5-gene panel, NGS)

  Code 3274 · Next-generation sequencing (NGS)

  Genes: APOB, GHR, PCSK9, LDLRAP1, LDLR

  Turnaround time: 33 working days

• Familial hypercholesterolemia (APOB gene, NGS)

  Code 10987 · Next-generation sequencing (NGS)

  Genes: APOB

  Turnaround time: 33 working days

• Familial hypercholesterolemia, autosomal recessive (LDLRAP1 gene, NGS)

  Code 10989 · Next-generation sequencing (NGS)

  Genes: LDLRAP1

  Turnaround time: 33 working days

• Familial hypercholesterolemia (gene panel, NGS)

  Code 3411 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Familial hypercholesterolemia (LDLR gene, NGS)

  Code 10986 · Next-generation sequencing (NGS)

  Genes: LDLR

  Turnaround time: 33 working days

• Familial hypertriglyceridemia (16-gene panel, NGS)

  Code 11005 · Next-generation sequencing (NGS)

  Genes: APOA5, APOC2, APOC3, APOE, GPD1, GPIHBP1, INSIG2, LIPC and 8 more

  Turnaround time: 33 working days

• Familial hypokalemic periodic paralysis (2-gene panel, NGS)

  Code 11247 · Next-generation sequencing (NGS)

  Genes: CACNA1S, SCN4A

  Turnaround time: 33 working days

• Familial isolated glucocorticoid deficiency (MC2R gene, NGS)

  Code 10601 · Next-generation sequencing (NGS)

  Genes: MC2R

  Turnaround time: 33 working days

• Familial isolated glucocorticoid deficiency (MRAP gene, NGS)

  Code 10602 · Next-generation sequencing (NGS)

  Genes: MRAP

  Turnaround time: 33 working days

• Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (LCAT gene, NGS)

  Code 10603 · Next-generation sequencing (NGS)

  Genes: LCAT

  Turnaround time: 33 working days

• Familial medullary thyroid carcinoma (RET gene, NGS, CNVs)

  Code 3390 · Next-generation sequencing (NGS) + CNVs

  Genes: RET

  Turnaround time: 30 working days

• Familial pheochromocytoma (15-gene panel, NGS)

  Code 10050 · Next-generation sequencing (NGS)

  Genes: CDC73, CDKN1B, FH, KIF1B, MAX, NF1, PRKAR1A, RET and 7 more

  Turnaround time: 33 working days

• Familial thyroid dyshormonogenesis (TG gene, NGS)

  Code 10659 · Next-generation sequencing (NGS)

  Genes: TG

  Turnaround time: 33 working days

• Familial thyroid dyshormonogenesis (TPO gene, NGS)

  Code 10658 · Next-generation sequencing (NGS)

  Genes: TPO

  Turnaround time: 33 working days

• Fanconi-Bickel syndrome (SLC2A2 gene, NGS)

  Code 10919 · Next-generation sequencing (NGS)

  Genes: SLC2A2

  Turnaround time: 33 working days

• Fatty acid oxidation disorders (26-gene panel, NGS)

  Code 10180 · Next-generation sequencing (NGS)

  Genes: ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ALDH5A1 and 18 more

  Turnaround time: 33 working days

• Folate and homocysteine metabolism disorders (19-gene panel, NGS)

  Code 10133 · Next-generation sequencing (NGS)

  Genes: ADK, AHCY, ALDH6A1, CBS, CD320, CTH, GNMT, LMBRD1 and 11 more

  Turnaround time: 33 working days

• FoodHealth

  Code 3341 · DNA microchip

  Genes: 102 variantes genéticas, presentes em 75 genes, e 18 parâmetros bioquímicos

  Turnaround time: 15 working days

• Fructose-1,6-bisphosphatase deficiency (FBP1 gene, NGS)

  Code 10575 · Next-generation sequencing (NGS)

  Genes: FBP1

  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

• Galactokinase deficiency (GALK1 gene, NGS)

  Code 10576 · Next-generation sequencing (NGS)

  Genes: GALK1

  Turnaround time: 33 working days