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

237 tests · Page 4 of 8

• Ehlers-Danlos syndrome, classical type (3-gene panel, NGS)

  Code 10807 · Next-generation sequencing (NGS)

  Genes: COL3A1, COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome, musculocontractural type (CHST14 gene, NGS)

  Code 10818 · Next-generation sequencing (NGS)

  Genes: CHST14

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (COL3A1 gene, NGS)

  Code 10812 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (COL5A3 gene, NGS)

  Code 10813 · Next-generation sequencing (NGS)

  Genes: COL5A3

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (TNXB gene, NGS)

  Code 10814 · Next-generation sequencing (NGS)

  Genes: TNXB

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (2-gene panel, NGS)

  Code 10809 · Next-generation sequencing (NGS)

  Genes: COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A1 gene, NGS)

  Code 10810 · Next-generation sequencing (NGS)

  Genes: COL5A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A2 gene, NGS)

  Code 10811 · Next-generation sequencing (NGS)

  Genes: COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type IV (COL3A1 gene, NGS)

  Code 3276 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type IV (vascular) (COL3A1 gene, NGS)

  Code 10815 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type VIIC (dermatosparaxis) (ADAMTS2 gene, NGS)

  Code 10817 · Next-generation sequencing (NGS)

  Genes: ADAMTS2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type VI (PLOD1 gene, NGS)

  Code 10816 · Next-generation sequencing (NGS)

  Genes: PLOD1

  Turnaround time: 33 working days

• Epstein syndrome (MYH9 gene, NGS)

  Code 10627 · Next-generation sequencing (NGS)

  Genes: MYH9

  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

• Factor V Leiden gene mutation (1691G>A mutation)

  Code 908 · PCR

  Genes: F5

  Turnaround time: 8 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 (LDLR gene, NGS)

  Code 10986 · Next-generation sequencing (NGS)

  Genes: LDLR

  Turnaround time: 33 working days

• Familial hypercholesterolemia (WES-based panel, NGS, CNVs)

  Code 3520 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 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 hypertrophic cardiomyopathy (38-gene panel, NGS)

  Code 3220 · Next-generation sequencing (NGS)

  Genes: ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CSRP3, DES, FHL1 and 30 more

  Turnaround time: 33 working days

• Familial isolated dilated cardiomyopathy/Familial isolated restrictive cardiomyopathy (TNNI3 gene, NGS)

  Code 10066 · Next-generation sequencing (NGS)

  Genes: TNNI3

  Turnaround time: 33 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 thoracic aortic aneurysm (ACTA2 gene, NGS)

  Code 10265 · Next-generation sequencing (NGS)

  Genes: ACTA2

  Turnaround time: 33 working days

• Familial thoracic aortic aneurysm (MYH11 gene, NGS)

  Code 10263 · Next-generation sequencing (NGS)

  Genes: MYH11

  Turnaround time: 33 working days

• Familial thoracic aortic aneurysm (MYLK gene, NGS)

  Code 10266 · Next-generation sequencing (NGS)

  Genes: MYLK

  Turnaround time: 33 working days