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 9 of 14

• Male pseudohermaphroditism due to 5-alpha-reductase deficiency (SRD5A1 gene, NGS)

  Code 11312 · Next-generation sequencing (NGS)

  Genes: SRD5A1

  Turnaround time: 33 working days

• Male pseudohermaphroditism due to 5-alpha-reductase deficiency (SRD5A2 gene, NGS)

  Code 11313 · Next-generation sequencing (NGS)

  Genes: SRD5A2

  Turnaround time: 33 working days

• Maple syrup urine disease (4-gene panel, NGS)

  Code 10173 · Next-generation sequencing (NGS)

  Genes: BCKDHA, BCKDHB, DBT, DLD

  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

• McCune-Albright syndrome (GNAS gene, NGS)

  Code 11119 · Next-generation sequencing (NGS)

  Genes: GNAS

  Turnaround time: 33 working days

• Medium-chain acyl-CoA dehydrogenase deficiency (ACADM gene, sequencing)

  Code 3312 · Sanger sequencing

  Genes: ACADM

  Turnaround time: 33 working days

• Metabolic myopathies and rhabdomyolysis (55-gene panel, NGS)

  Code 10177 · Next-generation sequencing (NGS)

  Genes: ACAD9, ACADL, ACADM, ACADVL, AGL, AHCY, ALDOA, AMPD1 and 47 more

  Turnaround time: 33 working days

• Metachromatic leukodystrophy (ARSA gene, NGS)

  Code 11082 · Next-generation sequencing (NGS)

  Genes: ARSA

  Turnaround time: 33 working days

• Methylmalonic acidemia (5-gene panel, NGS)

  Code 10107 · Next-generation sequencing (NGS)

  Genes: MCEE, MMAA, MMAB, MMADHC, MUT

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria type c1431_1433dupAAA, MMACHC gene (MMACHC gene, NGS)

  Code 10114 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria, type cblC (MMACHC gene, NGS)

  Code 10115 · Next-generation sequencing (NGS)

  Genes: MMACHC

  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 c.322C>T mutation

  Code 10106 · Next-generation sequencing (NGS)

  Genes: MUT

  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

• Methylmalonic acidemia with homocystinuria, type cblF (LMBRD1 gene, NGS)

  Code 10116 · Next-generation sequencing (NGS)

  Genes: LMBRD1

  Turnaround time: 33 working days

• Mevalonic aciduria, porokeratosis 3, hyper-IgD syndrome (MVK gene, NGS)

  Code 10119 · Next-generation sequencing (NGS)

  Genes: MVK

  Turnaround time: 33 working days

• Mitochondrial complex IV deficiency (FASTKD2 gene, NGS)

  Code 10555 · Next-generation sequencing (NGS)

  Genes: FASTKD2

  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

• Mixed hyperlipidemias (31-gene panel, NGS)

  Code 10998 · Next-generation sequencing (NGS)

  Genes: ABCA1, ABCG5, ABCG8, AGPAT2, AKT2, ALMS1, APOA1, APOA5 and 23 more

  Turnaround time: 33 working days

• MODY1 diabetes (HNF4A gene, NGS)

  Code 10637 · Next-generation sequencing (NGS)

  Genes: HNF4A

  Turnaround time: 33 working days

• MODY2 diabetes (GCK gene, NGS)

  Code 10638 · Next-generation sequencing (NGS)

  Genes: GCK

  Turnaround time: 33 working days

• MODY3 diabetes (HNF1A gene, NGS)

  Code 10639 · Next-generation sequencing (NGS)

  Genes: HNF1A

  Turnaround time: 33 working days

• MODY5 diabetes (HNF1B gene, NGS)

  Code 10640 · Next-generation sequencing (NGS)

  Genes: HNF1B

  Turnaround time: 33 working days

• MODY diabetes (13-gene panel, NGS)

  Code 10636 · Next-generation sequencing (NGS)

  Genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL and 5 more

  Turnaround time: 33 working days

• MODY type 2 (GCK gene, sequencing)

  Code 3260 · Sanger sequencing

  Genes: GCK

  Turnaround time: 33 working days