Prenatal Analysis

Test Specimen Type Specimen Requirement Avg.TAT
CombiSNP™ Array Prenatal
Direct*
Amniotic fluid
Chorionic villi
15-20 mL amniotic fluid or
5-10 mg cleaned chorionic villi
7-8 days†
CombiSNP™ Array for
Prenatal Analysis
Cultured amniocytes
Cultured villi
One confluent T-25 flask 7-8 days†
Karyotype Analysis Amniotic fluid
Chorionic villi
15 mL amniotic fluid or
25-30 mL with reflex to microarray or
5-10 mg cleaned chorionic villi
10-12 days
Amniotic Fluid AFP/AChE Amniotic fluid 2 mL amniotic fluid 3 days
CombiFISH™ ‡ Amniotic fluid
Chorionic villi
5 mL amniotic fluid or
5 mg cleaned chorionic villi
24-48 hrs§
Family Studies Peripheral blood Contact our Genetic Counseling Services
Team: 949.255.0921
7-8 days
Maternal Cell Contamination
(MCC) Studies
Maternal peripheral blood 4 mL blood in an EDTA (purple top) tube 17 days||

Pregnancy Loss Analysis

Test Specimen Type Specimen Requirement Avg.TAT
CombiSNP™ Array for
Pregnancy Loss
Fresh tissue in RPMI with
antibiotics
15-20 mg fetal or placental tissue placed in
RPMI in a 50 mL tube
10-12 days
CombiSNP™ Array for
Pregnancy Loss
Formalin-fixed paraffin-
embedded (FFPE) tissue
block or unstained slides
1 FFPE block with >1 cm3 of fetal tissue or
c10 unstained slides with 7 micron-thick
sections plus one H&E stained slide
10-12 days
Maternal Cell Contamination
(MCC) Studies
Peripheral blood 4 mL blood in an EDTA (purple top) tube 17 days†
Parental Karyotype Analysis Peripheral blood 4 mL blood in a NaHep (green top) tube 14 days

Preimplantation Genetic Testing

Test Specimen Type Specimen Requirement Avg.TAT
CombiPGD™ for
Single Gene Disorders
Cells from embryo
biopsy
1 cell (blastomere) from a Day 3 embryo or
5-10 trophectoderm cells from a Day 5/6 embryo
12-14 days
CombiPGD™ for
Chromosome Translocations
Cells from embryo
biopsy
1 cell (blastomere) from a Day 3 embryo or
5-10 trophectoderm cells from a Day 5/6 embryo
12-14 days
CombiPGS™ Cells from embryo
biopsy
1 cell (blastomere) from a Day 3 embryo or
5-10 trophectoderm cells from a Day 5/6 embryo
24 hrs (Day 3 biopsy)
3-4 days (Day 5/6
biopsy & freeze)
Parental Karyotype Analysis Peripheral blood 4 mL blood in a NaHep (green top) tube 14 days

Pediatric Analysis

Test Specimen Type Specimen Requirement Avg.TAT
CombiSNP™ Array for
Pediatric Analysis
Peripheral blood
Buccal swab
4 mL blood in an EDTA (purple top) tube and 4 mL
NaHep (green top) tube (NICU/PICU patients,
minimum 1-2 mL per tube)
Use ORAcollect OC-100 kit (follow enclosed
directions)
10-12 days
Fragile X Analysis Peripheral blood 4 mL blood in an EDTA (purple top) tube 10 days
Karyotype Analysis Peripheral blood 4 mL blood in a NaHep (green top) tube 12 days

For a printable version of this information, please click here: Test Menu

For more information about specimen types and sample requirements, please contact Client Services at 949.255.0920. 03282017

 

Pregnancy Loss Analysis for Specimen Guide

CombiMatrix accepts fresh tissue,  formalin-fixed paraffin-embedded tissue (FFPE) blocks and/or unstained slidesand. In order to provide you with the highest quality results, it is important that we receive a fetal tissue sample of sufficient size and quality. Proper tissue selection and sampling technique greatly enhance our ability to provide results for your patients. This guide will help you to identify the optimal type, size and storage method for products of conception (POC) samples.

Fresh Tissue Sorting Guidelines

First Trimester Losses / No Visible Fetal Parts
If no fetal parts are visible, it is ideal to collect a minimum of 25 mg of chorionic villi (1.0 cm3, about the size of a small marble) from the placenta. For best results, clean the specimen prior to sending by removing large blood clots from the sample and washing the tissue with sterile saline until it is clear of blood. This helps clean the tissue, reduces the likelihood of contamination from maternal blood, and allows for better identification of the fetal tissue. When possible, separate the villi from the maternal decidua. (Decidua looks pink, dense, and sheet like. Villi, when well-rinsed, tend to float and look feathery and whiter than the decidua.)

If it is not possible to clean the sample before sending it, please collect a slightly larger sample (1.5 cm3, about the size of a large marble) to help ensure that sufficient villi are included in the sample. It is important that the sample is placed in RPMI supplemented with antibiotics to keep the sample moist and help prevent bacterial growth while it is being transported. If RPMI with antibiotics is not available, sterile saline can be used. Avoid storing samples in formalin-based solutions. If the sample cannot be stored in RPMI or saline, it can be fixed in formalin and embedded in a paraffin block (FFPE).

Later Losses, Intrauterine Fetal Demise, and Stillbirth / Visible Fetal Parts
When fetal parts are visible, the ideal fetal tissue to collect is skeletal or cardiac muscle. Samples of the skin, connective tissue, or internal organs are also acceptable. If the family objects to taking a fetal sample, 1-2 mL of cord blood or a section of the umbilical cord near the site of insertion should be obtained. The minimum recommended sample size for fetal tissue is 25 mg or ~1.0 cm3 (about the size of a small marble).

The following diagram can be used as a visual guide when collecting a fetal specimen. As a reminder, fetal samples should be placed in RPMI supplemented with antibiotics. Specimen kits and the recommended RPMI antibiotics transport media are available at no charge – simply contact our Client Services Department at 800.710.0624, opt 1 or by email at clientservices@combimatrix.com to request it.

Fresh POC Tissue Sizing Guide

Fresh Tissue Shipping Instructions

  1. Complete the test requisition form and ensure that all of the required information has been provided.
  2. Label each tube with the patient’s name, date of birth, gender and date of specimen collection. If known, please indicate fetal gender.
  3. Place the POC tissue into the 50 mL tube containing sterile transport medium and cap the tube tightly to prevent leakage. Then place the tube and any other samples (FFPE blocks, slides, maternal blood sample or extracted DNA) directly into the biohazard specimen bag along with the absorbent pad.
  4. Seal the bag by exhausting excess air and pressing firmly along the seal treads.
  5. Place the sealed biohazard bag with all its contents and the completed requisition form into the cardboard transport kit, and close it. If, during transport, the POC sample may be exposed to temperatures above room temperature (20°C), please include a cold-pack.
  6. Insert the transport kit into the FedEx Clinical Pak and firmly seal it.
  7. If your office does not have regularly scheduled sample pick-ups, please drop off the kit or call 800.GOFEDEX (800.463.3339) to schedule one.

Same day shipping is strongly recommended. For samples shipped on Friday, please request overnight delivery for Saturday morning. If the sample cannot be shipped same-day, store both the tissue and blood sample in the refrigerator until it can be shipped. Fresh tissue samples are best when received by our laboratory within 48 hours following collection.

FFPE Blocks – Solid Tissue
If providing paraffin-embedded tissue blocks, a sample size of 1.0cm3  target tissue is optimal.

Unstained Slides
When providing unstained slides, please include at least 10 unstained slides with FFPE tissue cut at 7 micron thickness, such that the total amount of fetal tissue contained on the slides is ≥ 1cm3 fetal tissue. Please also include 1 H&E stained slide for review.

FFPE Blocks and Unstained Slides Shipping Instructions

  1. Complete the test requisition form and ensure that all of the required information has been provided.
  2. Label each sample with the patient’s name, date of birth, gender and date of specimen collection. If known, please indicate fetal gender.
  3. Place samples (FFPE tissue blocks, slides) directly into the biohazard specimen bag along with the absorbent pad.
  4. Seal the bag by exhausting excess air and pressing firmly along the seal treads.
  5. Place the sealed biohazard bag with all its contents and the completed requisition form into the cardboard transport kit, and close it. Insert the transport kit into the FedEx Clinical Pak and firmly seal it.
  6. If your office does not have a regularly scheduled sample pick-ups, please drop off the kit at your local FedEx office or call 800.GO-FEDEX (800.463.3339) to schedule a pick-up.

If you would like to order supplies, or have any additional questions regarding specimen types or proper handling, please contact Client Services at 800.710.0624 opt 1, or by email at clientservices@combimatrix.com

For a printable version of this information, please click here: Pregnancy Loss Analysis Specimen Guide