NGS – GenoMed https://genomed.pt GenoMed Thu, 23 Jan 2025 23:02:34 +0000 en-GB hourly 1 https://wordpress.org/?v=6.1.8 https://genomed.pt/wp-content/uploads/2020/06/cropped-favicon-genomed-32x32.png NGS – GenoMed https://genomed.pt 32 32 Adult onset leukodystrophy: gene panel https://genomed.pt/en/leukodystrophies-gene-panel/ Wed, 12 Aug 2020 02:36:54 +0000 https://genomed.pt/?p=20570
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Neurology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

93

Test / Mutation List

AARS, AARS2, ABCD1, ALDH3A2, APP, ARSA, AUH, CLCN2, COL4A1, COL4A2, CSF1R, CST3, CTC1, CTSA, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS, GALC, GBE1, GCDH, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GSN, HEPACAM, HEXA, HMGCL, HTRA1, ITM2B, KIF5A, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MAL, MARS, MCOLN1, MTHFR, NOTCH3, NPC1, OCRL, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR1C, POLR3A, POLR3B, PRNP, PSAP, PSEN1, PSEN2, PTEN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SNORD118, SPG11, SPG21, TPP2, TREM2, TREX1, TTR, TUBB4A, TYMP, TYROBP, ZFYVE26

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> D-2-hydroxyglutaric aciduria: D2HGDH gene https://genomed.pt/en/d-2-hydroxyglutaric-aciduria-d2hgdh-gene/ Sat, 15 Jan 2022 23:05:30 +0000 https://genomed.pt/?p=113630
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

#600721

Gene Number

1

Test / Mutation List

D2HGDH

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Familial dyslipidemia / hypercholesterolemia: gene panel https://genomed.pt/en/familial-hypercholesterolemia-gene-panel/ Wed, 12 Aug 2020 02:36:05 +0000 https://genomed.pt/?p=20562
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Endocrinology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

27

Test / Mutation List

ABCA1, ABCG5, ABCG8, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APTX, CREB3L3, CYP27A1, EPHX2, GHR, GPD1, GPIHBP1, ITIH4, LDLR, LDLRAP1, LIPA, LIPI, LMF1, LPL, LRP6, PCSK9, PPP1R17, USF1

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> GLUT1 deficiency syndrome 1: SLC2A1 gene https://genomed.pt/en/glut1-deficiency-syndrome-1-slc2a1-gene/ Sat, 29 Jan 2022 23:05:50 +0000 https://genomed.pt/?p=113700
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

#612126

Gene Number

1

Test / Mutation List

SLC2A1

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Glycogenoses: gene panel https://genomed.pt/en/glycogenoses-gene-panel/ Wed, 12 Aug 2020 02:35:35 +0000 https://genomed.pt/?p=20554
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Endocrinology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

30

Test / Mutation List

AGL, ALDOA, ALDOB, AMPD1, CPT2, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> HMG-CoA lyase deficiency: HMGCL gene https://genomed.pt/en/hmg-coa-lyase-deficiency-hmgcl-gene/ Wed, 28 Apr 2021 14:14:29 +0000 https://genomed.pt/?p=57683
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

#246450

Gene Number

1

Test / Mutation List

HMGCL

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hyperammonemia: CA5A, CPS1, NAGS, OTC genes https://genomed.pt/en/hyperammonemia-ca5a-cps1-nags-otc-genes/ Wed, 12 Aug 2020 02:35:50 +0000 https://genomed.pt/?p=20558
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Endocrinology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

4

Test / Mutation List

CA5A, CPS1, NAGS, OTC

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hypogonadotropic hypogonadism (Kallmann syndrome): gene panel https://genomed.pt/en/hypogonadotropic-hypogonadism-kallmann-syndrome-gene-panel/ Wed, 12 Aug 2020 02:39:53 +0000 https://genomed.pt/?p=20606
Speciality(ies) / Other Speciality(ies)

Endocrinology

Metabolic Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

33

Test / Mutation List

ANOS1, AXL, CCDC141, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NR0B1, NSMF, POLR3B, PROK2, PROKR2, SEMA3A, SEMA3E, SEMA7A, SOX10, SPRY4, SRA1, TAC3, TACR3, WDR11

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hypomagnesemia: gene panel https://genomed.pt/en/hypomagnesemia-gene-panel/ Wed, 12 Aug 2020 02:37:39 +0000 https://genomed.pt/?p=20582
Speciality(ies) / Other Speciality(ies)

Endocrinology

Metabolic Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

24

Test / Mutation List

BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM1, CNNM2, CNNM4, EGF, EGFR, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, MMGT1, NIPA2, PCBD1, SARS2, SLC12A3, SLC41A2, SLC41A3, TRPM6, TRPM7

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> McArdle disease: PYGM gene https://genomed.pt/en/mcardle-disease-pygm-gene/ Fri, 14 Jan 2022 23:04:57 +0000 https://genomed.pt/?p=113610
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

#232600

Gene Number

1

Test / Mutation List

PYGM

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

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