Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Diagnostic or predictive testing for specific conditions when 1 or more variants have been identified in a family member
Carrier screening for individuals at risk for having a variant that was previously identified in a family member
Documentation of the specific familial variants is required and must be provided with the specimen in order to perform this test. Consultation with the laboratory is required prior to ordering this test.
Note: analysis of the area surrounding the familial variant may be required in the performance of this assay, which could result in identification of additional variants. Contact the laboratory at 800-533-1710 with any questions regarding assay performance.
The preferred specimen for this test is whole blood. Other specimens may be acceptable for certain genes as follows.
The following genes are available for testing on the blood spot specimen type:
ABCD1, ACADM, ACADS, ACADVL, ARSA, ARSB, CFTR*, CPT2, CPOX, FECH, FTCD, GAA, GALT, GALC, GBA, GLA, GNS, HMBS, IDS, IDUA, MMACHC, MMADHC, NAGLU, PPOX, SGSH, SLC25A20, SMN1, SMPD1, and SUMF1
*Note: CFTR deletion/duplication analysis is not offered on dried blood spot specimens.
The following genes are available for testing on fibroblasts and skin biopsy specimen types:
ABCD1, ACADM, ACADS, ACADVL, APOA1, APOA2, ARSA, ARSB, ATP7B, BTD, CDKN1C, CPOX, CPT2, CTRC, FECH, FGA, FTCD, GAA, GALC, GALT, GBA, GLA, GNPTAB, GNS, GRN, GSN, HEXA, HMBS, IDS, IDUA, LYZ, MAPT, MMACHC, MMADHC, NAGLU, PKHD1, PPOX, PRSS1, RET, SCG5, SGSH, SLC25A20, SMN1, SMPD1, SPINK1, SUMF1, TTR, and UBE3A
Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.
The following genes are available for testing on prenatal specimen types:
ABCD1, AGXT, ARSA, ARSB, BTD, CDKN1C, CFTR, CPT2, GLA, GALC, GALT, GBA, GNPTAB, GNS, GRHPR, HEXA, IDS, IDUA, MLYCD, MMACHC, MMADHC, NAGLU, NPC1, NPC2, PKHD1, SGSH, SLC25A20, SMN1, SMPD1, SUMF1, and UBE3A. Contact the laboratory to inquire about genes not included on this list.
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
MATCC | Maternal Cell Contamination, B | Yes | No |
CULFB | Fibroblast Culture for Genetic Test | Yes | No |
CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
_G001 | Gene GRHPR | No, (Bill Only) | No |
_G002 | Gene PPOX | No, (Bill Only) | No |
_G003 | Gene CFTR_SEQ | No, (Bill Only) | No |
_G004 | Gene CFTR_MLPA | No, (Bill Only) | No |
_G005 | Gene MLH1 | No, (Bill Only) | No |
_G006 | Gene MSH2 | No, (Bill Only) | No |
_G007 | Gene MSH6 | No, (Bill Only) | No |
_G008 | Gene MECP2_SEQ | No, (Bill Only) | No |
_G009 | Gene MLH3 | No, (Bill Only) | No |
_G010 | Gene CHEK2 | No, (Bill Only) | No |
_G011 | Gene IDUA | No, (Bill Only) | No |
_G012 | Gene AXIN2 | No, (Bill Only) | No |
_G013 | Gene BMPR1A | No, (Bill Only) | No |
_G014 | Gene PTEN | No, (Bill Only) | No |
_G015 | Gene SMAD4 | No, (Bill Only) | No |
_G016 | Gene STK11 | No, (Bill Only) | No |
_G017 | Gene TP53 | No, (Bill Only) | No |
_G018 | Gene IDS | No, (Bill Only) | No |
_G019 | Gene FLCN | No, (Bill Only) | No |
_G020 | Gene SPINK1 | No, (Bill Only) | No |
_G021 | Gene PRSS1 | No, (Bill Only) | No |
_G022 | Gene CTRC | No, (Bill Only) | No |
_G025 | Gene ABCD1 | No, (Bill Only) | No |
_G026 | Gene CDH1 | No, (Bill Only) | No |
_G027 | Gene NAGLU | No, (Bill Only) | No |
_G028 | Gene SGSH | No, (Bill Only) | No |
_G029 | Gene ARSB | No, (Bill Only) | No |
_G030 | Gene GNPTAB | No, (Bill Only) | No |
_G031 | Gene SEPT9 | No, (Bill Only) | No |
_G032 | Gene ACADVL | No, (Bill Only) | No |
_G033 | Gene ACADM | No, (Bill Only) | No |
_G034 | Gene ACADS | No, (Bill Only) | No |
_G035 | Gene FECH | No, (Bill Only) | No |
_G036 | Gene MAPT | No, (Bill Only) | No |
_G037 | Gene PKHD1 | No, (Bill Only) | No |
_G038 | Gene GRN | No, (Bill Only) | No |
_G039 | Gene FTCD | No, (Bill Only) | No |
_G040 | Gene CDKN1C | No, (Bill Only) | No |
_G041 | Gene CPOX | No, (Bill Only) | No |
_G042 | Gene ATP7B | No, (Bill Only) | No |
_G043 | Gene GAA | No, (Bill Only) | No |
_G044 | Gene HMBS | No, (Bill Only) | No |
_G045 | Gene GALT | No, (Bill Only) | No |
_G046 | Gene GLA | No, (Bill Only) | No |
_G047 | Gene BTD | No, (Bill Only) | No |
_G048 | Gene HEXA | No, (Bill Only) | No |
_G049 | Gene AGXT | No, (Bill Only) | No |
_G050 | Gene APC | No, (Bill Only) | No |
_G051 | Gene MLYCD | No, (Bill Only) | No |
_G052 | Gene MMACHC | No, (Bill Only) | No |
_G053 | Gene GBA | No, (Bill Only) | No |
_G054 | Gene SMPD1 | No, (Bill Only) | No |
_G055 | Gene CPT2 | No, (Bill Only) | No |
_G056 | Gene TTR | No, (Bill Only) | No |
_G057 | Gene UBE3A | No, (Bill Only) | No |
_G058 | Gene GALC | No, (Bill Only) | No |
_G059 | Gene GSN | No, (Bill Only) | No |
_G060 | Gene LYZ | No, (Bill Only) | No |
_G061 | Gene FGA | No, (Bill Only) | No |
_G062 | Gene APOA1 | No, (Bill Only) | No |
_G063 | Gene APOA2 | No, (Bill Only) | No |
_G064 | Gene MMADHC | No, (Bill Only) | No |
_G065 | Gene SLC25A20 | No, (Bill Only) | No |
_G066 | Gene ARSA | No, (Bill Only) | No |
_G067 | Gene NPC1/2_SEQ and NPC1/2_MLPA | No, (Bill Only) | No |
_G068 | Gene PMS2_LR and PMS2_SEQ | No, (Bill Only) | No |
_G069 | Gene PMS2_MLPA | No, (Bill Only) | No |
_G070 | Gene RAI1 | No, (Bill Only) | No |
_G071 | Gene MUTYH | No, (Bill Only) | No |
_G072 | Gene HGSNAT | No, (Bill Only) | No |
_G073 | Gene GNS and GRHPR_MLPA | No, (Bill Only) | No |
_G074 | Gene PSAP | No, (Bill Only) | No |
_G075 | Single-gene Large Del/Dup | No, (Bill Only) | No |
_G076 | Gene MECP2_MLPA | No, (Bill Only) | No |
_G077 | Gene RET | No, (Bill Only) | No |
_G078 | Gene SUMF1 | No, (Bill Only) | No |
_G079 | Gene CASR_Seq | No, (Bill Only) | No |
_G080 | Gene VHL_SEQ | No, (Bill Only) | No |
_G081 | VHL_MLPA | No, (Bill Only) | No |
_G082 | Gene SHDP_MLPA | No, (Bill Only) | No |
_G083 | Gene SDHB, SDHC, and SDHD_MLPA | No, (Bill Only) | No |
_G084 | Gene SDHB, SDHC, SDHD_Seq | No, (Bill Only) | No |
_G085 | Gene BRCA1 | No, (Bill Only) | No |
_G086 | Gene BRCA2 | No, (Bill Only) | No |
_G087 | Gene DMD_MLPA | No, (Bill Only) | No |
_G088 | Gene PMP22_MLPA | No, (Bill Only) | No |
_G089 | Gene MPZ_MLPA | No, (Bill Only) | No |
_G102 | Gene SERPINA1 | No, (Bill Only) | No |
_G112 | Gene SDHAF2 | No, (Bill Only) | No |
_G113 | Gene TMEM127 | No, (Bill Only) | No |
_G114 | Gene MAX | No, (Bill Only) | No |
_G115 | Gene SMN1 | No, (Bill Only) | No |
_G125 | Gene PMP22_SEQ | No, (Bill Only) | No |
_G127 | Gene GJB2_SEQ | No, (Bill Only) | No |
_G128 | Gene HBA1/HBA2_SEQ | No, (Bill Only) | No |
_G129 | Gene HBB_SEQ | No, (Bill Only) | No |
_G130 | Known Familial Variant,Other | No, (Bill Only) | No |
G168 | Gene CSTB | No, (Bill Only) | No |
G169 | Gene CACNA1A | No, (Bill Only) | No |
For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
Testing for variants detected by whole exome sequencing (WES) or large panels: Any familial mutation targeted testing (FMTT) orders for a variant that was detected by WES or next-generation sequencing (NGS) large panel assays requires a proband sample that has been previously tested at Mayo Clinic Laboratories. Contact the laboratory to determine whether adequate DNA is available in the laboratory or if a new proband sample is required.
The following algorithms are available in Special Instructions:
-Fabry Disease Diagnostic Testing Algorithm
-Fabry Disease: Newborn Screen-Positive Follow-up
-Full Gene Analysis/Multi-Gene Panels versus Familial Mutation Targeted Testing
-Lynch Syndrome Testing Algorithm
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Polymerase Chain Reaction (PCR) followed by DNA Sequencing Analysis, Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH), and/or Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)