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

187 tests · Page 5 of 7

• Hyper-IgE syndrome (STAT3 gene, NGS)

  Code 10985 · Next-generation sequencing (NGS)

  Genes: STAT3

  Turnaround time: 33 working days

• Ichthyosis vulgaris with autosomal dominant inheritance (FLG gene, NGS)

  Code 11052 · Next-generation sequencing (NGS)

  Genes: FLG

  Turnaround time: 33 working days

• Incontinentia pigmenti (exons 4-10 deletion, IKBKG gene, sequencing)

  Code 3250 · Sanger sequencing

  Genes: del exões 4-10, gene IKBKG

  Turnaround time: 33 working days

• Junctional epidermolysis bullosa (COL17A1 gene, NGS)

  Code 10865 · Next-generation sequencing (NGS)

  Genes: COL17A1

  Turnaround time: 33 working days

• Junctional epidermolysis bullosa (LAMA3 gene, NGS)

  Code 10862 · Next-generation sequencing (NGS)

  Genes: LAMA3

  Turnaround time: 33 working days

• Junctional epidermolysis bullosa (LAMB3 gene, NGS)

  Code 10864 · Next-generation sequencing (NGS)

  Genes: LAMB3

  Turnaround time: 33 working days

• Junctional epidermolysis bullosa (LAMC2 gene, NGS)

  Code 10863 · Next-generation sequencing (NGS)

  Genes: LAMC2

  Turnaround time: 33 working days

• Junctional epidermolysis bullosa with pyloric atresia (3-gene panel, NGS)

  Code 10866 · Next-generation sequencing (NGS)

  Genes: ITGB4, ITGA6, PLEC

  Turnaround time: 33 working days

• Juvenile hyaline fibromatosis (ANTXR2 gene, NGS)

  Code 10924 · Next-generation sequencing (NGS)

  Genes: ANTXR2

  Turnaround time: 33 working days

• Lamellar ichthyosis (13-gene panel, NGS)

  Code 11047 · Next-generation sequencing (NGS)

  Genes: ABCA12, ALMS1, ALOX12B, CASP14, CERS3, KRT14, KRT2, KRT9 and 5 more

  Turnaround time: 33 working days

• Legius syndrome (neurofibromatosis type 1-like) (SPRED1 gene, NGS)

  Code 11078 · Next-generation sequencing (NGS)

  Genes: SPRED1

  Turnaround time: 33 working days

• LEOPARD syndrome (PTPN11 gene, NGS)

  Code 11079 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days

• LEOPARD syndrome (RAF1 gene, NGS)

  Code 11080 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days

• Menkes syndrome (ATP7A gene, NGS)

  Code 11120 · Next-generation sequencing (NGS)

  Genes: ATP7A

  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

• Mowat-Wilson syndrome (ZEB2 gene, NGS)

  Code 11141 · Next-generation sequencing (NGS)

  Genes: ZEB2

  Turnaround time: 33 working days

• Nail-patella-like renal disease (LMX1B gene, NGS)

  Code 11158 · Next-generation sequencing (NGS)

  Genes: LMX1B

  Turnaround time: 33 working days

• Neonatal hemangioma (3-gene panel, NGS)

  Code 10961 · Next-generation sequencing (NGS)

  Genes: ANTXR1, FLT4, KDR

  Turnaround time: 33 working days

• Neurofibromatosis (2-gene panel, NGS)

  Code 10049 · Next-generation sequencing (NGS)

  Genes: NF1, NF2

  Turnaround time: 33 working days

• Neurofibromatosis-like syndromes (8-gene panel, NGS)

  Code 11165 · Next-generation sequencing (NGS)

  Genes: KIT, KITLG, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1

  Turnaround time: 33 working days

• Neurofibromatosis type 1, MLPA (NF1 gene)

  Code 3207 · MLPA

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 1 (point mutation) [Amniotic fluid]

  Code 3147 · Sequencing

  Genes: NF1

  Turnaround time: 30 working days

• Neurofibromatosis type 1, sequencing (NF1 gene)

  Code 3206 · Next-generation sequencing (NGS)

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 2, MLPA (NF2 gene)

  Code 3163 · MLPA

  Genes: NF2

  Turnaround time: 93 working days

• Neurofibromatosis type 2, sequencing (NF2 gene)

  Code 3153 · PCR / Sequencing

  Genes: NF2

  Turnaround time: 93 working days

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Oculocutaneous albinism type 2 (MITF gene, NGS)

  Code 10196 · Next-generation sequencing (NGS)

  Genes: MITF

  Turnaround time: 33 working days

• Oculocutaneous albinism type 2 (OCA2 gene, NGS)

  Code 10197 · Next-generation sequencing (NGS)

  Genes: OCA2

  Turnaround time: 33 working days

• Omenn syndrome (PHOX2B gene, NGS)

  Code 11214 · Next-generation sequencing (NGS)

  Genes: PHOX2B

  Turnaround time: 33 working days